{"id":10605,"date":"2023-06-14T12:11:50","date_gmt":"2023-06-14T03:11:50","guid":{"rendered":"http:\/\/cell.brc.riken.jp\/en\/?page_id=10605"},"modified":"2025-08-04T09:53:22","modified_gmt":"2025-08-04T00:53:22","slug":"ga-scd","status":"publish","type":"page","link":"http:\/\/cell.brc.riken.jp\/en\/hps\/patient_specific_ips\/ga-scd","title":{"rendered":"Genetic analysis of disease-specific iPS cells: Spinocerebellar degeneration"},"content":{"rendered":"

In relation to iPS cells derived from Spinocerebellar degeneration, we analyzed the number of repeated sequences in 8 gene regions.
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Analyzed cell lines: 18 cell lines (18 patients)
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Analyzed genes (Related disease)\uff1aATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN8OS (SCA8), TBP (SCA17), ATN1 (DRPLA), BEAN (SCA31)
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Method: Analyzed the number of repeats in 7 gene regions (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN8OS, TBP, ATN1) by multiplex PCR and the presence\/absence of repeat insertions of specific sequences in BEAN gene region by repeat primed PCR.
\r\n\r\nResults:\r\n\n\n\n\n\t\n\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t
Cell No.<\/th>Age<\/th>Sex<\/th>ATXN1 (SCA1)<\/th>ATXN2 (SCA2)<\/th>ATXN3 (SCA3)<\/th>CACNA1A (SCA6)<\/th>ATXN8OS (SCA8)<\/th>TBP (SCA17)<\/th>ATN1 (DRPLA)<\/th>BEAN (SCA31)<\/th>other clones derived from the same patient<\/th>\n<\/tr>\n<\/thead>\n
HPS0425<\/a><\/td>50s<\/td>M<\/td>26\/28<\/td>19\/22<\/td>14\/24<\/td>13\/23<\/td>27\/29<\/td>36\/39<\/td>13\/18<\/td>normal<\/td><\/td>\n<\/tr>\n
HPS0464<\/a><\/td>40s<\/td>M<\/td>29\/31<\/td>22\/22<\/td>24\/74<\/td>11\/14<\/td>18\/30<\/td>37\/39<\/td>13\/17<\/td>normal<\/td>HPS0465<\/a>, HPS0466<\/a><\/td>\n<\/tr>\n
HPS0467<\/a><\/td>30s<\/td>F<\/td>26\/29<\/td>22\/22<\/td>14\/79<\/td>11\/13<\/td>23\/27<\/td>36\/37<\/td>10\/11<\/td>normal<\/td>HPS0468<\/a>, HPS0469<\/a><\/td>\n<\/tr>\n
HPS0570<\/a><\/td>50s<\/td>M<\/td>28\/29<\/td>19\/22<\/td>14\/14<\/td>11\/13<\/td>23\/29<\/td>28\/37<\/td>7\/23<\/td>normal<\/td>HPS0571<\/a>, HPS0572<\/a>, HPS0573<\/a>, HPS0574<\/a>, HPS0575<\/a><\/td>\n<\/tr>\n
HPS0582<\/a><\/td>60s<\/td>F<\/td>29\/31<\/td>22\/22<\/td>14\/19<\/td>7\/11<\/td>25\/27<\/td>39\/41<\/td>12\/17<\/td>normal<\/td>HPS0583<\/a>, HPS0584<\/a>, HPS0585<\/a>, HPS0586<\/a>, HPS0587<\/a><\/td>\n<\/tr>\n
HPS0588<\/a><\/td>50s<\/td>M<\/td>29\/30<\/td>22\/22<\/td>27\/33<\/td>11\/11<\/td>18\/18<\/td>36\/37<\/td>13\/20<\/td>normal<\/td>HPS0589<\/a>, HPS0590<\/a>, HPS0591<\/a>, HPS0592<\/a>, HPS0593<\/a><\/td>\n<\/tr>\n
HPS0594<\/a><\/td>30s<\/td>F<\/td>29\/30<\/td>22\/22<\/td>14\/84<\/td>11\/13<\/td>24\/27<\/td>36\/36<\/td>11\/13<\/td>normal<\/td>HPS0595<\/a>, HPS0596<\/a>, HPS0597<\/a>, HPS0598<\/a>, HPS0599<\/a><\/td>\n<\/tr>\n
HPS0600<\/a><\/td>30s<\/td>M<\/td>28\/31<\/td>22\/22<\/td>38\/78<\/td>12\/13<\/td>18\/26<\/td>32\/36<\/td>8\/17<\/td>normal<\/td>HPS0601<\/a>, HPS0602<\/a>, HPS0603<\/a>, HPS0604<\/a>, HPS0605<\/a><\/td>\n<\/tr>\n
HPS0606<\/a><\/td>50s<\/td>F<\/td>23\/26<\/td>22\/22<\/td>14\/75<\/td>13\/14<\/td>23\/27<\/td>36\/38<\/td>17\/17<\/td>normal<\/td>HPS0607<\/a>, HPS0608<\/a>, HPS0609<\/a>, HPS0610<\/a>, HPS0611<\/a><\/td>\n<\/tr>\n
HPS0776<\/a><\/td>60s<\/td>M<\/td>26\/28<\/td>22\/22<\/td>19\/27<\/td>11\/14<\/td>27\/28<\/td>36\/36<\/td>11\/13<\/td>normal<\/td>HPS0777<\/a>, HPS0778<\/a>, HPS0779<\/a>, HPS0780<\/a>, HPS0781<\/a><\/td>\n<\/tr>\n
HPS0806<\/a><\/td>60s<\/td>F<\/td>28\/30<\/td>22\/43<\/td>14\/27<\/td>13\/14<\/td>18\/30<\/td>36\/36<\/td>17\/18<\/td>normal<\/td>HPS0807<\/a>, HPS0808<\/a>, HPS0809<\/a>, HPS0810<\/a>, HPS0811<\/a><\/td>\n<\/tr>\n
HPS0836<\/a><\/td>60s<\/td>M<\/td>23\/29<\/td>22\/22<\/td>14\/14<\/td>13\/13<\/td>25\/26<\/td>36\/37<\/td>10\/15<\/td>normal<\/td>HPS0837<\/a>, HPS0838<\/a>, HPS0839<\/a>, HPS0840<\/a>, HPS0841<\/a><\/td>\n<\/tr>\n
HPS1035<\/a><\/td>60s<\/td>M<\/td>28\/28<\/td>22\/22<\/td>14\/14<\/td>12\/13<\/td>18\/27<\/td>36\/36<\/td>10\/15<\/td>normal<\/td><\/td>\n<\/tr>\n
HPS1725<\/a><\/td>20s<\/td>F<\/td>26\/26<\/td>22\/22<\/td>19\/36<\/td>12\/13<\/td>24\/27<\/td>36\/37<\/td>15\/68<\/td>normal<\/td><\/td>\n<\/tr>\n
HPS1726<\/a><\/td>20s<\/td>M<\/td>26\/30<\/td>22\/22<\/td>14\/26<\/td>13\/13<\/td>24\/32<\/td>36\/37<\/td>11\/67<\/td>normal<\/td>HPS1727<\/a><\/td>\n<\/tr>\n
HPS1887<\/a><\/td>60s<\/td>M<\/td>26\/29<\/td>22\/22<\/td>14\/14<\/td>23\/23<\/td>18\/29<\/td>36\/37<\/td>15\/17<\/td>normal<\/td><\/td>\n<\/tr>\n
HPS1888<\/a><\/td>50s<\/td>M<\/td>26\/30<\/td>22\/22<\/td>14\/14<\/td>14\/27<\/td>27\/28<\/td>36\/36<\/td>10\/10<\/td>normal<\/td>HPS1889<\/a><\/td>\n<\/tr>\n
HPS1898<\/a><\/td>70s<\/td>F<\/td>26\/29<\/td>22\/22<\/td>14\/27<\/td>7\/15<\/td>18\/18<\/td>36\/39<\/td>15\/19<\/td>repeat inserted<\/td>HPS1899<\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n\r\n","protected":false},"excerpt":{"rendered":"

In relation to iPS cells derived from Spinocerebellar degeneration, we analyzed the number of repeated sequences in 8 gene regions. Analyzed cell lines: 18 cell lines (18 patients) Analyzed genes (Related disease)\uff1aATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN8OS (SCA8), TBP (SCA17), ATN1 (DRPLA), BEAN (SCA31) Method: Analyzed the number of repeats in 7 gene regions (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN8OS, TBP, ATN1) by multiplex PCR and the presence\/absence of repeat insertions of specific sequences in BEAN gene region by repeat primed PCR. Results:<\/p>\n","protected":false},"author":97,"featured_media":0,"parent":10124,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_seopress_titles_title":"","_seopress_titles_desc":"","_seopress_robots_index":"","_seopress_robots_follow":"","_seopress_robots_imageindex":"","_seopress_robots_snippet":"","_seopress_robots_primary_cat":"","_seopress_robots_breadcrumbs":"","_seopress_robots_freeze_modified_date":"","_seopress_robots_custom_modified_date":"","_seopress_robots_canonical":"","_seopress_social_fb_title":"","_seopress_social_fb_desc":"","_seopress_social_fb_img":"","_seopress_social_fb_img_attachment_id":0,"_seopress_social_fb_img_width":0,"_seopress_social_fb_img_height":0,"_seopress_social_twitter_title":"","_seopress_social_twitter_desc":"","_seopress_social_twitter_img":"","_seopress_social_twitter_img_attachment_id":0,"_seopress_social_twitter_img_width":0,"_seopress_social_twitter_img_height":0,"_seopress_redirections_value":"","_seopress_redirections_enabled":"","_seopress_redirections_enabled_regex":"","_seopress_redirections_logged_status":"both","_seopress_redirections_param":"","_seopress_redirections_type":301,"_seopress_analysis_target_kw":"","footnotes":"","_wp_rev_ctl_limit":""},"class_list":["post-10605","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/pages\/10605","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/users\/97"}],"replies":[{"embeddable":true,"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/comments?post=10605"}],"version-history":[{"count":5,"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/pages\/10605\/revisions"}],"predecessor-version":[{"id":11110,"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/pages\/10605\/revisions\/11110"}],"up":[{"embeddable":true,"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/pages\/10124"}],"wp:attachment":[{"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/media?parent=10605"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}