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Cellosaurus GM28877 (CVCL_D3A5)

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Cell line name GM28877
Accession CVCL_D3A5
Resource Identification Initiative To cite this cell line use: GM28877 (RRID:CVCL_D3A5)
Comments Population: Caucasian and Chinese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:22923; GMPPA; Simple; p.Thr292Pro (c.874A>C); ClinVar=VCV001684137; Zygosity=Heterozygous (Coriell=GM28877).
  • Mutation; HGNC; HGNC:22923; GMPPA; Simple; p.Arg318Trp (c.952C>T); ClinVar=VCV003685821; Zygosity=Heterozygous (Coriell=GM28877).
Disease Alacrima, achalasia, and impaired intellectual development syndrome (NCIt: C202544)
Triple A syndrome (ORDO: Orphanet_869)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1Y3M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28877
Encyclopedic resources Wikidata; Q127380932
Entry history
Entry creation30-Jan-2024
Last entry update27-Nov-2025
Version number4