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Cellosaurus GM04597 (CVCL_GY24)

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Cell line name GM04597
Synonyms GM04597A
Accession CVCL_GY24
Resource Identification Initiative To cite this cell line use: GM04597 (RRID:CVCL_GY24)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4283; GJB1; Simple; p.Val139Met (c.415G>A); ClinVar=VCV000010433; Zygosity=Heterozygous (Coriell=GM04597).
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 56Y
Category Finite cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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; GM04597
Cell line databases/resources CLO; CLO_0018914
Encyclopedic resources Wikidata; Q54838583
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number14