Cellosaurus cell line CHOPi009-A (CVCL

Cross-references
Cell line name	CHOPi009-A
Synonyms	LD_0324.0
Accession	CVCL_C1NX
Resource Identification Initiative	To cite this cell line use: CHOPi009-A (RRID:CVCL_C1NX)
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	4Y
Category	Induced pluripotent stem cell
Publications	PubMed=38181636; DOI=10.1016/j.scr.2023.103299; PMCID=PMC10836393 Luis Garcia, Carlos Dominguez Gonzalez, Alyssa L. Gagne, Jean Ann Maguire, Deborah L. French, Asako Takanohashi, Akshata A. Almad, Adeline Vanderver, Sunetra Sase; 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; CHOPi009-A
Biological sample resources	BioSamples; SAMEA110587394
Encyclopedic resources	Wikidata; Q114310963
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	6