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Cellosaurus CHOCi005-A (CVCL_C9ZB)

[Text version]
Cell line name CHOCi005-A
Accession CVCL_C9ZB
Resource Identification Initiative To cite this cell line use: CHOCi005-A (RRID:CVCL_C9ZB)
Comments From: Children's Hospital of Orange County; Orange; USA.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4298; GLB1; Simple; p.Cys127Tyr (c.380G>A); ClinVar=VCV000918041; Zygosity=Heterozygous (hPSCreg=CHOCi005-A).
  • Mutation; HGNC; 4298; GLB1; Simple; p.Trp161Gly (c.481T>G); ClinVar=VCV000092910; Zygosity=Heterozygous (hPSCreg=CHOCi005-A).
Disease GM1 gangliosidosis (NCIt: C84739)
GM1 gangliosidosis (ORDO: Orphanet_354)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_W024 (GM03589)
Sex of cell Female
Age at sampling 7M
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; CHOCi005-A
Biological sample resources BioSamples; SAMEA115493702
Encyclopedic resources Wikidata; Q123030923
Entry history
Entry creation05-Oct-2023
Last entry update10-Sep-2024
Version number3