ID   CiRA00025
AC   CVCL_T782
SY   A3415; HPS0293
DR   RCB; HPS0293
DR   SKIP; SKIP000231
DR   Wikidata; Q54813406
RX   PubMed=22855461;
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 site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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 (Human)
OI   CVCL_T781 ! CiRA00024
OI   CVCL_T783 ! CiRA00026
SX   Female
AG   62Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 29-06-23; Version: 13
//
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).
//