ID   NYSCF-AG0014-01-MR
AC   CVCL_JX05
SY   AG0014-01-MR
DR   Wikidata; Q54931399
CC   From: New York Stem Cell Foundation; New York; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12666; VCP; Simple; p.Gly97Glu (c.290G>A); ClinVar=VCV000218306; Zygosity=Unspecified (NYSCF).
DI   NCIt; C168974; Charcot-Marie-Tooth disease type 2Y
DI   ORDO; Orphanet_435387; Autosomal dominant Charcot-Marie-Tooth disease type 2Y
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 19-12-24; Version: 9
//