Cellosaurus cell line CHOPi011-A (CVCL

Cross-references
Cell line name	CHOPi011-A
Synonyms	LD_1669.0
Accession	CVCL_C1NZ
Resource Identification Initiative	To cite this cell line use: CHOPi011-A (RRID:CVCL_C1NZ)
Comments	From: Children's Hospital of Philadelphia; Philadelphia; USA. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:225; ADAR; Simple; p.Gly1007Arg (c.3019G>A); ClinVar=VCV000039458; Zygosity=Heterozygous (PubMed=38181636).
Disease	Aicardi-Goutieres syndrome 6 (NCIt: C206070) Aicardi-Goutieres syndrome (ORDO: Orphanet_51)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	7Y
Category	Induced pluripotent stem cell
Publications	PubMed=38181636; DOI=10.1016/j.scr.2023.103299; PMCID=PMC10836393 Garcia L., Dominguez Gonzalez C., Gagne A.L., Maguire J.A., French D.L., Takanohashi A., Almad A.A., Vanderver A., Sase S. Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutieres syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1. Stem Cell Res. 74:103299-103299(2024)
Cell line databases/resources	hPSCreg; CHOPi011-A
Biological sample resources	BioSamples; SAMEA110587400
Encyclopedic resources	Wikidata; Q114310965
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	6