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Cellosaurus GM05149 (CVCL_1K25)

[Text version]
Cell line name GM05149
Accession CVCL_1K25
Resource Identification Initiative To cite this cell line use: GM05149 (RRID:CVCL_1K25)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Gene amplification; HGNC; HGNC:9118; PMP22; Duplication; Zygosity=Unspecified (Coriell=GM05149).
  • Mutation; HGNC; HGNC:7225; MPZ; Simple; c.448+64T>C (IVS3+64T>C); ClinVar=VCV000683189; Zygosity=Homozygous (Coriell=GM05149).
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)
Originate from same individual CVCL_1K24 ! GM05148
Sex of cell Male
Age at sampling 19Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM05149
Cell line databases/resources CLO; CLO_0025242
Encyclopedic resources Wikidata; Q54838888
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number12