ID   NYSCF-AG0019-01-MR
AC   CVCL_JX10
SY   AG0019-01-MR
DR   Wikidata; Q54931404
CC   From: New York Stem Cell Foundation; New York; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:7225; MPZ; Simple; p.Arg98Cys (c.292C>T); ClinVar=VCV000014175; 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: 22-08-17; Last updated: 19-12-24; Version: 7
//