ID   GM13363
AC   CVCL_Y602
DR   CLO; CLO_0012844
DR   BioSample; SAMN00802332
DR   Coriell; GM13363
DR   Wikidata; Q54846482
CC   Sequence variation: Mutation; HGNC; HGNC:7225; MPZ; Simple; p.Asp90Glu (c.270C>A); ClinVar=VCV000014167; Zygosity=Heterozygous (Coriell=GM13363).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C118782; Charcot-Marie-Tooth disease type 1B
DI   ORDO; Orphanet_101082; Charcot-Marie-Tooth disease type 1B
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   32Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 15
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