{"id":10562,"date":"2023-04-06T21:02:53","date_gmt":"2023-04-06T12:02:53","guid":{"rendered":"http:\/\/cell.brc.riken.jp\/en\/?page_id=10562"},"modified":"2025-07-28T15:00:46","modified_gmt":"2025-07-28T06:00:46","slug":"ga-als","status":"publish","type":"page","link":"http:\/\/cell.brc.riken.jp\/en\/hps\/patient_specific_ips\/ga-als","title":{"rendered":"Genetic analysis of disease-specific iPS cells: Amyotrophic Lateral Sclerosis (ALS)"},"content":{"rendered":"

In relation to iPS cells derived from Amyotrophic Lateral Sclerosis (ALS), we analyzed causal genes, SOD1 gene and TARDBP\/ALS10\/TDP-43 gene.<\/p>\r\n

Analyzed cell lines: 61 cell lines (61 patients)
\r\n\r\n

Methods: Target sequence with NGS (Ion S5) using Ion AmpliSeq\u2122 On-Demand panel which covers all exons of SOD1 gene and TARDBP\/ALS10\/TDP-43 gene.
\r\n\r\n

Results:
\r\n\u30fbMutations in SOD1 gene were detected in 8 cell lines (8 patients).
\r\n\u30fbMutations in TARDBP\/ALS10\/TDP-43 gene were detected in 2 cell lines (2 patients).
\r\n\u30fbNeither mutation of SOD1 nor mutation of TARDBP\/ALS10\/TDP-43 was detected in 51 cell lines (51 patients).\r\n<\/p>\r\n\r\nMutations in SOD1\r\n\n\n\n\n\t\n\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t
Cell No.<\/strong><\/th>Age<\/strong><\/th>Sex<\/strong><\/th>Exon<\/strong><\/th>Locus<\/strong><\/th>Coding<\/strong><\/th>Amino Acid Change<\/strong><\/th>homo or hetero<\/strong><\/th>other clones derived from the same patient<\/strong><\/th>\n<\/tr>\n<\/thead>\n
HPS0250<\/a><\/td>40s<\/td>F<\/td>2<\/td>chr21:33036170<\/td>c.140A>G<\/td>p.His47Arg<\/td>hetero<\/td><\/td>\n<\/tr>\n
HPS0476<\/a><\/td>50s<\/td>M<\/td>2<\/td>chr21:33036170<\/td>c.140A>G<\/td>p.His47Arg<\/td>hetero<\/td>HPS0477<\/a>, HPS0478<\/a><\/td>\n<\/tr>\n
HPS0485<\/a><\/td>40s<\/td>F<\/td>2<\/td>chr21:33036170<\/td>c.140A>G<\/td>p.His47Arg<\/td>hetero<\/td>HPS0486<\/a>, HPS0487<\/a><\/td>\n<\/tr>\n
HPS0564<\/a><\/td>30s<\/td>M<\/td>2<\/td>chr21:33036170<\/td>c.140A>G<\/td>p.His47Arg<\/td>hetero<\/td>HPS0565<\/a>, HPS0566<\/a>, HPS0567<\/a>, HPS0568<\/a>, HPS0569<\/a><\/td>\n<\/tr>\n
HPS0059<\/a><\/td>40s<\/td>M<\/td>4<\/td>chr21:33039650<\/td>c.319C>G<\/td>p.Leu107Val<\/td>hetero<\/td><\/td>\n<\/tr>\n
HPS0558<\/a><\/td>40s<\/td>M<\/td>4<\/td>chr21:33039650<\/td>c.319C>G<\/td>p.Leu107Val<\/td>hetero<\/td>HPS0559<\/a>, HPS0560<\/a>, HPS0561<\/a>, HPS0562<\/a>, HPS0563<\/a><\/td>\n<\/tr>\n
HPS0251<\/a><\/td>40s<\/td>M<\/td>5<\/td>chr21:33040855<\/td>c.430_434dup<\/td>p.Leu145PhefsTer7<\/td>hetero<\/td>HPS1719<\/a><\/td>\n<\/tr>\n
HPS0252<\/a><\/td>40s<\/td>M<\/td>5<\/td>chr21:33040855<\/td>c.430_434dup<\/td>p.Leu145PhefsTer7<\/td>hetero<\/td>HPS1720<\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n\r\n\r\nMutations in TARDBP \/ ALS10 \/ TDP-43\r\n\n\n\n\n\t\n\n\t\n\t
Cell No.<\/th>Age<\/th>Sex<\/th>Exon<\/th>Locus<\/th>Coding<\/th>Amino Acid Change<\/th>homo or hetero<\/th>other clones derived from the same patient<\/th>\n<\/tr>\n<\/thead>\n
HPS0290<\/a><\/td>50s<\/td>M<\/td>6<\/td>chr1:11082494<\/td>c.1028A>G<\/td>p.Gln343Arg<\/td>hetero<\/td>HPS0291<\/a>, HPS0327<\/a><\/td>\n<\/tr>\n
HPS0292<\/a><\/td>60s<\/td>F<\/td>6<\/td>chr1:11082475<\/td>c.1009A>G<\/td>p.Met337Val<\/td>hetero<\/td>HPS0293<\/a>, HPS0294<\/a>, HPS1717<\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n\r\n\r\nThe list of cell lines in which neither mutation of SOD1 nor mutation of TARDBP\/ALS10\/TDP-43 was detected.
\r\nHPS0129<\/a>, HPS0134<\/a>, HPS0140<\/a>, HPS0146<\/a>, HPS0247<\/a>, HPS0248<\/a>, HPS0253<\/a>, HPS0419<\/a>, HPS0473<\/a>, HPS0576<\/a>, HPS0612<\/a>, HPS0618<\/a>, HPS0624<\/a>, HPS0630<\/a>, HPS0636<\/a>, HPS0642<\/a>, HPS0648<\/a>, HPS0724<\/a>, HPS0730<\/a>, HPS0736<\/a>, HPS0742<\/a>, HPS0748<\/a>, HPS0754<\/a>, HPS0760<\/a>, HPS0766<\/a>, HPS0782<\/a>, HPS0788<\/a>. HPS0794<\/a>, HPS0824<\/a>, HPS0860<\/a>, HPS0878<\/a>, HPS0890<\/a>, HPS0896<\/a>, HPS0902<\/a>, HPS0908<\/a>, HPS0914<\/a>, HPS0920<\/a>, HPS0926<\/a>, HPS1055<\/a>, HPS1056<\/a>, HPS1721<\/a>, HPS1818<\/a>, HPS1819<\/a>, HPS1821<\/a>, HPS1822<\/a>, HPS1824<\/a>, HPS1826<\/a>, HPS1828<\/a>, HPS1830<\/a>, HPS1831<\/a>, HPS1835<\/a> <\/p>\r\n\r\n\r\n

<\/p>\r\n","protected":false},"excerpt":{"rendered":"

In relation to iPS cells derived from Amyotrophic Lateral Sclerosis (ALS), we analyzed causal genes, SOD1 gene and TARDBP\/ALS10\/TDP-43 gene. Analyzed cell lines: 61 cell lines (61 patients) Methods: Target sequence with NGS (Ion S5) using Ion AmpliSeq\u2122 On-Demand panel which covers all exons of SOD1 gene and TARDBP\/ALS10\/TDP-43 gene. Results: \u30fbMutations in SOD1 gene were detected in 8 cell lines (8 patients). \u30fbMutations in TARDBP\/ALS10\/TDP-43 gene were detected in 2 cell lines (2 patients). \u30fbNeither mutation of SOD1 nor mutation of TARDBP\/ALS10\/TDP-43 was detected in 51 cell lines (51 patients). Mutations in SOD1 Mutations in TARDBP \/ ALS10 \/ TDP-43 The list of cell lines in which neither mutation of SOD1 nor mutation of TARDBP\/ALS10\/TDP-43 was detected. HPS0129, HPS0134, HPS0140, HPS0146, HPS0247, HPS0248, HPS0253, HPS0419, HPS0473, HPS0576, HPS0612, HPS0618, HPS0624, HPS0630, HPS0636, HPS0642, HPS0648, HPS0724, HPS0730, HPS0736, HPS0742, HPS0748, HPS0754, HPS0760, HPS0766, HPS0782, HPS0788. HPS0794, HPS0824, HPS0860, HPS0878, HPS0890, HPS0896, HPS0902, HPS0908, HPS0914, HPS0920, HPS0926, HPS1055, HPS1056, HPS1721, HPS1818, HPS1819, HPS1821, HPS1822, HPS1824, HPS1826, HPS1828, HPS1830, HPS1831, HPS1835<\/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-10562","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/pages\/10562","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=10562"}],"version-history":[{"count":1,"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/pages\/10562\/revisions"}],"predecessor-version":[{"id":10565,"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/pages\/10562\/revisions\/10565"}],"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=10562"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}