ID   NYSCF-AG0001-01-MR
AC   CVCL_RZ99
SY   AG0001-01-MR
DR   Wikidata; Q54931389
CC   From: New York Stem Cell Foundation; New York; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7225; MPZ; Simple; p.Thr124Met (c.371C>T); ClinVar=VCV000014181; Zygosity=Unspecified (NYSCF).
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   Male
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 8
//