Cellosaurus cell line NH50284 (CVCL

Cross-references
Cell line name	NH50284
Synonyms	Q3SC
Accession	CVCL_YT98
Resource Identification Initiative	To cite this cell line use: NH50284 (RRID:CVCL_YT98)
Comments	Population: Asian. Characteristics: The ATM p.Glu73Metfs*26 (c.217_218delGA) present in the patient and in another iPSC from the same individual has been lost during the reprogramming process. Omics: Transcriptome analysis by RNAseq. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg2598Ter (c.7792C>T); ClinVar=VCV000265383; Zygosity=Heterozygous (PubMed=26677768).
Disease	Ataxia telangiectasia syndrome (NCIt: C2887) Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_YT97 ! NH50283
Sex of cell	Male
Age at sampling	8Y
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; NH50284
Encyclopedic resources	Wikidata; Q98127747
Gene expression databases	GEO; GSM1847142 GEO; GSM1847143
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	7