ID   CiRA00022
AC   CVCL_T779
SY   Cira22; A21421; HPS0290
DR   RCB; HPS0290
DR   SKIP; SKIP000228
DR   Wikidata; Q54813392
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.Gln343Arg (c.1028A>G); ClinVar=VCV000005235; 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_Y961 ! CiRA00021
OI   CVCL_T780 ! CiRA00023
SX   Male
AG   55Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 17-03-22; Version: 12
//
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).
//