Cellosaurus cell line CiRA00021 (CVCL

Cellosaurus CiRA00021 (CVCL_Y961)

Cross-references
Cell line name	CiRA00021
Synonyms	A21412; HPS0289; HPS0327
Accession	CVCL_Y961
Resource Identification Initiative	To cite this cell line use: CiRA00021 (RRID:CVCL_Y961)
Comments	From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan. Population: Japanese. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11571; TARDBP; Simple; p.Gln343Arg (c.1028A>G); ClinVar=VCV000005235; Zygosity=Heterozygous (PubMed=22855461).
Disease	Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia (NCIt: C168752) Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_T779 ! CiRA00022 CVCL_T780 ! CiRA00023
Sex of cell	Male
Age at sampling	55Y
Category	Induced pluripotent stem cell
Publications	PubMed=22855461; DOI=10.1126/scitranslmed.3004052 Naohiro Egawa, Shiho Kitaoka, Kayoko Tsukita, Motoko Naitoh, Kazutoshi Takahashi, Takuya Yamamoto, Fumihiko Adachi, Takayuki Kondo, Keisuke Okita, Isao Asaka, Takashi Aoi ...Show all 38 authors... , Akira Watanabe, Yasuhiro Yamada, Asuka Morizane, Jun Takahashi, Takashi Ayaki, Hidefumi Ito, Katsuhiro Yoshikawa, Satoko Yamawaki, Shigehiko Suzuki, Dai Watanabe, Hiroyuki Hioki, Takeshi Kaneko, Kouki Makioka, Koichi Okamoto, Hiroshi Takuma, Akira Tamaoka, Kazuko Hasegawa, Takashi Nonaka, Masato Hasegawa, Akihiro Kawata, Minoru Yoshida, Tatsutoshi Nakahata, Ryosuke Takahashi, Maria Carolina N. Marchetto, Fred Harrison Gage, Shinya Yamanaka, Haruhisa Inoue; Show fewer authors Drug screening for ALS using patient-specific induced pluripotent stem cells. Sci. Transl. Med. 4:145ra104.1-145ra104.8(2012) PubMed=30127392; DOI=10.1038/s41591-018-0140-5 Koki Fujimori, Mitsuru Ishikawa, Asako Otomo, Naoki Atsuta, Ryoichi Nakamura, Tetsuya Akiyama, Shinji Hadano, Masashi Aoki, Hideyuki Saya, Gen Sobue, Hideyuki Okano; Modeling sporadic ALS in iPSC-derived motor neurons identifies a potential therapeutic agent. Nat. Med. 24:1579-1589(2018)
Cell line collections (Providers)	RCB; HPS0289 - Discontinued RCB; HPS0327
Cell line databases/resources	SKIP; SKIP000626
Encyclopedic resources	Wikidata; Q54813390
Entry history
Entry creation	10-Apr-2015
Last entry update	10-Apr-2025
Version number	13