ID   GM05148
AC   CVCL_1K24
DR   CLO; CLO_0025241
DR   Coriell; GM05148
DR   Wikidata; Q54838887
CC   Population: Caucasian.
CC   Sequence variation: Gene amplification; HGNC; HGNC:9118; PMP22; Duplication; Zygosity=Unspecified (Coriell=GM05148).
CC   Sequence variation: Mutation; HGNC; HGNC:7225; MPZ; Simple; c.448+64T>C (IVS3+64T>C); ClinVar=VCV000683189; Zygosity=Homozygous (Coriell=GM05148).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75468; Charcot-Marie-Tooth disease type 1A
DI   ORDO; Orphanet_101081; Charcot-Marie-Tooth disease type 1A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_1K25 ! GM05149
SX   Male
AG   17Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 11
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