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Cellosaurus CHOPi009-A (CVCL_C1NX)

[Text version]
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
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)

Cross-references
Cell line databases/resources hPSCreg; CHOPi009-A
Biological sample resources BioSamples; SAMEA110587394
Encyclopedic resources Wikidata; Q114310963
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number6