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Cellosaurus GM28252 (CVCL_B0IG)

[Text version]
Cell line name GM28252
Synonyms GM28252*B
Accession CVCL_B0IG
Resource Identification Initiative To cite this cell line use: GM28252 (RRID:CVCL_B0IG)
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 (from parent cell line).
  • Mutation; HGNC; HGNC:7225; MPZ; Simple; c.448+64T>C (IVS3+64T>C); ClinVar=VCV000683189; Zygosity=Homozygous (from parent cell line).
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 Parent: CVCL_1K24 (GM05148)
Sex of cell Male
Age at sampling 17Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM28252
Encyclopedic resources Wikidata; Q108820321
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number6