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Cellosaurus CHOCi002-A (CVCL_C9Z8)

[Text version]
Cell line name CHOCi002-A
Accession CVCL_C9Z8
Resource Identification Initiative To cite this cell line use: CHOCi002-A (RRID:CVCL_C9Z8)
Comments From: Children's Hospital of Orange County; Orange; USA.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4065; GAA; Simple; c.-32-13T>G (IVS1-13T>G); ClinVar=VCV000004027; Zygosity=Heterozygous (PubMed=37167752).
  • Mutation; HGNC; 4065; GAA; Simple; p.Tyr609Ter (c.1826dupA); ClinVar=VCV000189144; Zygosity=Heterozygous (PubMed=37167752).
Disease Glycogen storage disease type II (NCIt: C84734)
Glycogen storage disease due to acid maltase deficiency (ORDO: Orphanet_365)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 7Y7M
Category Induced pluripotent stem cell
Publications

PubMed=37167752; DOI=10.1016/j.scr.2023.103117
Christensen C.L., Heckman P., Rha A., Kan S.-H., Harb J., Wang R.
Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene.
Stem Cell Res. 69:103117-103117(2023)

Cross-references
Cell line databases/resources hPSCreg; CHOCi002-A
Encyclopedic resources Wikidata; Q123030920
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2