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Cellosaurus GM04596 (CVCL_GY23)

[Text version]
Cell line name GM04596
Accession CVCL_GY23
Resource Identification Initiative To cite this cell line use: GM04596 (RRID:CVCL_GY23)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4283; GJB1; Simple; p.Val139Met (c.415G>A); ClinVar=VCV000010433; Zygosity=Heterozygous (Coriell=GM04596).
Disease Charcot-Marie-Tooth neuropathy X type 1 (NCIt: C129068)
X-linked Charcot-Marie-Tooth disease type 1 (ORDO: Orphanet_101075)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 83Y
Category Finite cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM04596
Cell line databases/resources CLO; CLO_0018886
Encyclopedic resources Wikidata; Q54838582
Entry history
Entry creation26-Sep-2016
Last entry update30-Jan-2024
Version number13