ID   GM23428
AC   CVCL_JA56
DR   Coriell; GM23428
DR   Wikidata; Q54853071
CC   Sequence variation: Mutation; HGNC; HGNC:9118; PMP22; Simple; p.His12Arg (c.35A>G); ClinVar=VCV000835185; Zygosity=Heterozygous (Coriell=GM23428).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C133087; Charcot-Marie-Tooth disease, type 3
DI   ORDO; Orphanet_64748; Dejerine-Sottas syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   37Y
CA   Transformed cell line
DT   Created: 15-05-17; Last updated: 10-04-25; Version: 11
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