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Cellosaurus CHOPi011-A (CVCL_C1NZ)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; CHOPi011-A
Biological sample resources BioSamples; SAMEA110587400
Encyclopedic resources Wikidata; Q114310965
Entry history
Entry creation22-Sep-2022
Last entry update10-Sep-2024
Version number5