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Cellosaurus CHOPi010-A (CVCL_C1NY)

[Text version]
Cell line name CHOPi010-A
Synonyms LD_1163.0
Accession CVCL_C1NY
Resource Identification Initiative To cite this cell line use: CHOPi010-A (RRID:CVCL_C1NY)
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; 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 Female
Age at sampling 2Y
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)

Cross-references
Cell line databases/resources hPSCreg; CHOPi010-A
Biological sample resources BioSamples; SAMEA110587398
Encyclopedic resources Wikidata; Q114310964
Entry history
Entry creation22-Sep-2022
Last entry update10-Sep-2024
Version number5