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Cellosaurus GM05148 (CVCL_1K24)

[Text version]
Cell line name GM05148
Accession CVCL_1K24
Resource Identification Initiative To cite this cell line use: GM05148 (RRID:CVCL_1K24)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Gene amplification; HGNC; HGNC:9118; PMP22; Duplication; Zygosity=Unspecified (Coriell=GM05148).
  • Mutation; HGNC; HGNC:7225; MPZ; Simple; c.448+64T>C (IVS3+64T>C); ClinVar=VCV000683189; Zygosity=Homozygous (Coriell=GM05148).
Disease Charcot-Marie-Tooth disease type 1A (NCIt: C75468)
Charcot-Marie-Tooth disease type 1A (ORDO: Orphanet_101081)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_B0IG (GM28252)
Originate from same individual CVCL_1K25 ! GM05149
Sex of cell Male
Age at sampling 17Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM05148
Cell line databases/resources CLO; CLO_0025241
Encyclopedic resources Wikidata; Q54838887
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number11