ID   CiRA00021
AC   CVCL_Y961
SY   A21412; HPS0289; HPS0327
DR   RCB; HPS0289
DR   RCB; HPS0327
DR   SKIP; SKIP000626
DR   Wikidata; Q54813390
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; HGNC:11571; TARDBP; Simple; p.Gln343Arg (c.1028A>G); ClinVar=VCV000005235; Zygosity=Heterozygous (PubMed=22855461).
CC   Discontinued: RCB; HPS0289; probable.
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_275872; Frontotemporal dementia with motor neuron disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_T779 ! CiRA00022
OI   CVCL_T780 ! CiRA00023
SX   Male
AG   55Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 10-04-25; Version: 13
//
RX   PubMed=30127392; DOI=10.1038/s41591-018-0140-5;
RA   Fujimori, Koki
RA   Ishikawa, Mitsuru
RA   Otomo, Asako
RA   Atsuta, Naoki
RA   Nakamura, Ryoichi
RA   Akiyama, Tetsuya
RA   Hadano, Shinji
RA   Aoki, Masashi
RA   Saya, Hideyuki
RA   Sobue, Gen
RA   Okano, Hideyuki
RT   "Modeling sporadic ALS in iPSC-derived motor neurons identifies a
RT   potential therapeutic agent.";
RL   Nat. Med. 24:1579-1589(2018).
//
RX   PubMed=22855461; DOI=10.1126/scitranslmed.3004052;
RA   Egawa, Naohiro
RA   Kitaoka, Shiho
RA   Tsukita, Kayoko
RA   Naitoh, Motoko
RA   Takahashi, Kazutoshi
RA   Yamamoto, Takuya
RA   Adachi, Fumihiko
RA   Kondo, Takayuki
RA   Okita, Keisuke
RA   Asaka, Isao
RA   Aoi, Takashi
RA   Watanabe, Akira
RA   Yamada, Yasuhiro
RA   Morizane, Asuka
RA   Takahashi, Jun
RA   Ayaki, Takashi
RA   Ito, Hidefumi
RA   Yoshikawa, Katsuhiro
RA   Yamawaki, Satoko
RA   Suzuki, Shigehiko
RA   Watanabe, Dai
RA   Hioki, Hiroyuki
RA   Kaneko, Takeshi
RA   Makioka, Kouki
RA   Okamoto, Koichi
RA   Takuma, Hiroshi
RA   Tamaoka, Akira
RA   Hasegawa, Kazuko
RA   Nonaka, Takashi
RA   Hasegawa, Masato
RA   Kawata, Akihiro
RA   Yoshida, Minoru
RA   Nakahata, Tatsutoshi
RA   Takahashi, Ryosuke
RA   Marchetto, Maria Carolina N.
RA   Gage, Fred Harrison
RA   Yamanaka, Shinya
RA   Inoue, Haruhisa
RT   "Drug screening for ALS using patient-specific induced pluripotent
RT   stem cells.";
RL   Sci. Transl. Med. 4:145ra104.1-145ra104.8(2012).
//