Cellosaurus cell line CiRA00025 (CVCL

Cellosaurus CiRA00025 (CVCL_T782)

Cross-references
Cell line name	CiRA00025
Synonyms	A3415; HPS0293
Accession	CVCL_T782
Resource Identification Initiative	To cite this cell line use: CiRA00025 (RRID:CVCL_T782)
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.Met337Val (c.1009A>G); ClinVar=VCV000005228; Zygosity=Heterozygous (PubMed=22855461).
Disease	Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia (NCIt: C168752) Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_T781 ! CiRA00024 CVCL_T783 ! CiRA00026
Sex of cell	Female
Age at sampling	62Y
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; HPS0293
Cell line databases/resources	SKIP; SKIP000231
Encyclopedic resources	Wikidata; Q54813406
Entry history
Entry creation	03-Feb-2014
Last entry update	19-Dec-2024
Version number	14