ID   NYSCF-AG0013-01-MR
AC   CVCL_JX04
SY   AG0013-01-MR
DR   Wikidata; Q54931398
CC   From: New York Stem Cell Foundation; New York; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:4283; GJB1; Simple; p.Glu102Gly (c.305A>G); ClinVar=VCV000216038; Zygosity=Hemizygous (NYSCF).
DI   NCIt; C129068; Charcot-Marie-Tooth neuropathy X type 1
DI   ORDO; Orphanet_101075; X-linked Charcot-Marie-Tooth disease type 1
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: 7
//