Cellosaurus cell line NH50282 (CVCL

Cross-references
Cell line name	NH50282
Synonyms	Q1SA
Accession	CVCL_YT96
Resource Identification Initiative	To cite this cell line use: NH50282 (RRID:CVCL_YT96)
Comments	Population: Caucasian. Omics: Transcriptome analysis by RNAseq. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:795; ATM; Simple; p.Glu522Ilefs (c.1564_1565delGA) (1563_1564delAG); ClinVar=VCV000127340; Zygosity=Heterozygous (PubMed=26677768). Mutation; HGNC; HGNC:795; ATM; Simple; p.Ser2394Leu (c.7181C>T); ClinVar=VCV000127437; Zygosity=Heterozygous (PubMed=26677768).
Disease	Ataxia telangiectasia syndrome (NCIt: C2887) Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	23Y1M
Category	Induced pluripotent stem cell
Publications	PubMed=26677768; DOI=10.1016/j.stemcr.2015.10.010; PMCID=PMC4682125 Lin L., Swerdel M.R., Lazaropoulos M.P., Hoffman G.S., Toro-Ramos A.J., Wright J., Lederman H.M., Chen J.-M., Moore J.C., Hart R.P. Spontaneous ATM gene reversion in A-T iPSC to produce an isogenic cell line. Stem Cell Reports 5:1097-1108(2015)
Cell line collections (Providers)	NHCDR; NH50282
Encyclopedic resources	Wikidata; Q98127745
Gene expression databases	GEO; GSM1847138 GEO; GSM1847139
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	8