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Cellosaurus GM25515 (CVCL_HQ49)

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Cell line name GM25515
Accession CVCL_HQ49
Resource Identification Initiative To cite this cell line use: GM25515 (RRID:CVCL_HQ49)
Comments Population: Caucasian; Mennonite.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:29427; SH3TC2; Simple; p.Arg954Ter (c.2860C>T); ClinVar=VCV000002482; Zygosity=Unspecified (Coriell=GM25515).
  • Mutation; HGNC; HGNC:10994; SLC26A2; Simple; p.Arg279Trp (c.835C>T); ClinVar=VCV000004089; Zygosity=Unspecified (Coriell=GM25515).
Disease Charcot-Marie-Tooth disease type 4C (NCIt: C129864)
Diastrophic dysplasia (NCIt: C156311)
Charcot-Marie-Tooth disease type 4C (ORDO: Orphanet_99949)
Diastrophic dwarfism (ORDO: Orphanet_628)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25515
Encyclopedic resources Wikidata; Q54854000
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number12