{"id":13606,"date":"2023-06-14T12:06:20","date_gmt":"2023-06-14T03:06:20","guid":{"rendered":"http:\/\/cell.brc.riken.jp\/ja\/?page_id=13606"},"modified":"2025-07-07T15:44:20","modified_gmt":"2025-07-07T06:44:20","slug":"ga-scd","status":"publish","type":"page","link":"http:\/\/cell.brc.riken.jp\/ja\/hps\/hps_diseaselist_index\/ga-scd","title":{"rendered":"\u810a\u9ac4\u5c0f\u8133\u5909\u6027\u75c7\u60a3\u8005\u7531\u6765iPS\u7d30\u80de\u306e\u907a\u4f1d\u5b50\u89e3\u6790\u60c5\u5831"},"content":{"rendered":"

\u5f53\u5ba4\u306b\u5bc4\u8a17\u3055\u308c\u3066\u3044\u308b\u810a\u9ac4\u5c0f\u8133\u5909\u6027\u75c7 \/ Spinocerebellar degeneration \u60a3\u8005\u7531\u6765iPS\u7d30\u80de\u306b\u3064\u3044\u3066\u3001\u810a\u9ac4\u5c0f\u8133\u5909\u6027\u75c7\u95a2\u9023\u30018\u907a\u4f1d\u5b50\u9818\u57df\u306e\u53cd\u5fa9\u914d\u5217\u306e\u30ea\u30d4\u30fc\u30c8\u6570\u3092\u89e3\u6790\u3057\u305f\u3002<\/p>\r\n\r\n

\u5bfe\u8c61\u7d30\u80de\u682a\uff1a20\u7d30\u80de\uff0820\u60a3\u8005\uff09
\r\n\r\n

\u89e3\u6790\u5bfe\u8c61\u907a\u4f1d\u5b50\uff08\u95a2\u9023\u75be\u60a3\uff09\uff1aATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN8OS (SCA8), TBP (SCA17), ATN1 (DRPLA), BEAN (SCA31)
\r\n\r\n

\u89e3\u6790\u65b9\u6cd5\uff1a\u30de\u30eb\u30c1\u30d7\u30ec\u30c3\u30af\u30b9PCR\u306b\u3088\u308aATXN1, ATXN2, ATXN3, CACNA1A, ATXN8OS, TBP, ATN1\u306e7\u907a\u4f1d\u5b50\u9818\u57df\u306b\u304a\u3051\u308b\u30ea\u30d4\u30fc\u30c8\u6570\u3092\u6e2c\u5b9a\u3002Repeat Primed PCR \u306b\u3088\u308aBEAN\u907a\u4f1d\u5b50\u9818\u57df\u306e\u7279\u5b9a\u914d\u5217\u306e\u30ea\u30d4\u30fc\u30c8\u633f\u5165\u306e\u6709\u7121\u3092\u6e2c\u5b9a\u3002
\r\n\r\n\u7d50\u679c\uff1a\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\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
HPS1740<\/a><\/td>40s<\/td>F<\/td>26\/45<\/td>22\/22<\/td>14\/29<\/td>7\/13<\/td>23\/27<\/td>36\/36<\/td>17\/17<\/td>normal<\/td><\/td>\n<\/tr>\n
HPS1741<\/a><\/td>60s<\/td>M<\/td>29\/43<\/td>22\/22<\/td>14\/27<\/td>12\/13<\/td>24\/27<\/td>36\/36<\/td>17\/17<\/td>normal<\/td><\/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":"

\u5f53\u5ba4\u306b\u5bc4\u8a17\u3055\u308c\u3066\u3044\u308b\u810a\u9ac4\u5c0f\u8133\u5909\u6027\u75c7 \/ Spinocerebellar degeneration \u60a3\u8005\u7531\u6765iPS\u7d30\u80de\u306b\u3064\u3044\u3066\u3001\u810a\u9ac4\u5c0f\u8133\u5909\u6027\u75c7\u95a2\u9023\u30018\u907a\u4f1d\u5b50\u9818\u57df\u306e\u53cd\u5fa9\u914d\u5217\u306e\u30ea\u30d4\u30fc\u30c8\u6570\u3092\u89e3\u6790\u3057\u305f\u3002 \u5bfe\u8c61\u7d30\u80de\u682a\uff1a20\u7d30\u80de\uff0820\u60a3\u8005\uff09 \u89e3\u6790\u5bfe\u8c61\u907a\u4f1d\u5b50\uff08\u95a2\u9023\u75be\u60a3\uff09\uff1aATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN8OS (SCA8) […]<\/p>\n","protected":false},"author":103,"featured_media":0,"parent":10660,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_seopress_robots_primary_cat":"","_seopress_titles_title":"","_seopress_titles_desc":"","_seopress_robots_index":"","_mc_calendar":[],"footnotes":"","_wp_rev_ctl_limit":""},"class_list":["post-13606","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"http:\/\/cell.brc.riken.jp\/ja\/wp-json\/wp\/v2\/pages\/13606","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/cell.brc.riken.jp\/ja\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"http:\/\/cell.brc.riken.jp\/ja\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"http:\/\/cell.brc.riken.jp\/ja\/wp-json\/wp\/v2\/users\/103"}],"replies":[{"embeddable":true,"href":"http:\/\/cell.brc.riken.jp\/ja\/wp-json\/wp\/v2\/comments?post=13606"}],"version-history":[{"count":14,"href":"http:\/\/cell.brc.riken.jp\/ja\/wp-json\/wp\/v2\/pages\/13606\/revisions"}],"predecessor-version":[{"id":13641,"href":"http:\/\/cell.brc.riken.jp\/ja\/wp-json\/wp\/v2\/pages\/13606\/revisions\/13641"}],"up":[{"embeddable":true,"href":"http:\/\/cell.brc.riken.jp\/ja\/wp-json\/wp\/v2\/pages\/10660"}],"wp:attachment":[{"href":"http:\/\/cell.brc.riken.jp\/ja\/wp-json\/wp\/v2\/media?parent=13606"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}