ID   GM28252
AC   CVCL_B0IG
SY   GM28252*B
DR   Coriell; GM28252
DR   Wikidata; Q108820321
CC   Population: Caucasian.
CC   Sequence variation: Gene amplification; HGNC; HGNC:9118; PMP22; Duplication; Zygosity=Unspecified (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:7225; MPZ; Simple; c.448+64T>C (IVS3+64T>C); ClinVar=VCV000683189; Zygosity=Homozygous (from parent cell line).
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)
HI   CVCL_1K24 ! GM05148
SX   Male
AG   17Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 6
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