Cellosaurus cell line BIUi002-A (CVCL

Cross-references
Cell line name	BIUi002-A
Synonyms	BIUi-002-A; T1A1i-002
Accession	CVCL_A0SW
Resource Identification Initiative	To cite this cell line use: BIUi002-A (RRID:CVCL_A0SW)
Comments	From: Bar Ilan University; Ramat Gan; Israel. Population: Arab. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:29456; TOR1AIP1; Simple; p.Arg321Ter (c.961C>T); ClinVar=VCV000804380; Zygosity=Homozygous (PubMed=34560421).
Disease	Autosomal recessive limb-girdle muscular dystrophy type 2Y (NCIt: C181000) TOR1AIP1-related limb-girdle muscular dystrophy (ORDO: Orphanet_424261)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	3Y
Category	Induced pluripotent stem cell
Publications	PubMed=34560421; DOI=10.1016/j.scr.2021.102539 Yam Ben-Haim, Leah Armon, Boris Fichtman, Irina Epshtein, Ronen Spiegel, Amnon Harel, Achia Urbach; Generation and characterization of iPSC lines from two nuclear envelopathy patients with a homozygous nonsense mutation in the TOR1AIP1 gene. Stem Cell Res. 56:102539-102539(2021)
Cell line databases/resources	hPSCreg; BIUi002-A
Biological sample resources	BioSamples; SAMEA9486399
Encyclopedic resources	Wikidata; Q108819951
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	5