ID   CiRA00024
AC   CVCL_T781
SY   A3411; HPS0292
DR   RCB; HPS0292
DR   SKIP; SKIP000230
DR   Wikidata; Q54813405
RX   PubMed=22855461;
RX   PubMed=30127392;
CC   From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 11571; TARDBP; Simple; p.Met337Val (c.1009A>G); ClinVar=VCV000005228; Zygosity=Heterozygous (PubMed=22855461).
CC   Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
DI   NCIt; C168752; Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_T782 ! CiRA00025
OI   CVCL_T783 ! CiRA00026
SX   Female
AG   62Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 17-03-22; Version: 11
//
RX   PubMed=22855461; DOI=10.1126/scitranslmed.3004052;
RA   Egawa N., Kitaoka S., Tsukita K., Naitoh M., Takahashi K.,
RA   Yamamoto T., Adachi F., Kondo T., Okita K., Asaka I., Aoi T.,
RA   Watanabe A., Yamada Y., Morizane A., Takahashi J., Ayaki T., Ito H.,
RA   Yoshikawa K., Yamawaki S., Suzuki S., Watanabe D., Hioki H.,
RA   Kaneko T., Makioka K., Okamoto K., Takuma H., Tamaoka A., Hasegawa K.,
RA   Nonaka T., Hasegawa M., Kawata A., Yoshida M., Nakahata T.,
RA   Takahashi R., Marchetto M.C.N., Gage F.H., Yamanaka S., Inoue H.;
RT   "Drug screening for ALS using patient-specific induced pluripotent
RT   stem cells.";
RL   Sci. Transl. Med. 4:145ra104.1-145ra104.8(2012).
//
RX   PubMed=30127392; DOI=10.1038/s41591-018-0140-5;
RA   Fujimori K., Ishikawa M., Otomo A., Atsuta N., Nakamura R.,
RA   Akiyama T., Hadano S., Aoki M., Saya H., Sobue G., Okano H.;
RT   "Modeling sporadic ALS in iPSC-derived motor neurons identifies a
RT   potential therapeutic agent.";
RL   Nat. Med. 24:1579-1589(2018).
//