Cellosaurus cell line CiRA00022 (CVCL

Cellosaurus CiRA00022 (CVCL_T779)

Cross-references
Cell line name	CiRA00022
Synonyms	Cira22; A21421; HPS0290
Accession	CVCL_T779
Resource Identification Initiative	To cite this cell line use: CiRA00022 (RRID:CVCL_T779)
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_Y961 ! CiRA00021 CVCL_T780 ! CiRA00023
Sex of cell	Male
Age at sampling	55Y
Category	Induced pluripotent stem cell
Publications	PubMed=22855461; DOI=10.1126/scitranslmed.3004052 Egawa N., Kitaoka S., Tsukita K., Naitoh M., Takahashi K., Yamamoto T., Adachi F., Kondo T., Okita K., Asaka I., Aoi T., Watanabe A., Yamada Y., Morizane A., Takahashi J., Ayaki T., Ito H., Yoshikawa K., Yamawaki S., Suzuki S., Watanabe D., Hioki H., Kaneko T., Makioka K., Okamoto K., Takuma H., Tamaoka A., Hasegawa K., Nonaka T., Hasegawa M., Kawata A., Yoshida M., Nakahata T., Takahashi R., Marchetto M.C.N., Gage F.H., Yamanaka S., Inoue H. Drug screening for ALS using patient-specific induced pluripotent stem cells. Sci. Transl. Med. 4:145ra104.1-145ra104.8(2012)
Cell line collections (Providers)	RCB; HPS0290
Cell line databases/resources	SKIP; SKIP000228
Encyclopedic resources	Wikidata; Q54813392
Entry history
Entry creation	03-Feb-2014
Last entry update	10-Apr-2025
Version number	16