ID   NYSCF-AG0003-01-MR
AC   CVCL_JW96
SY   AG0003-01-MR
DR   Wikidata; Q54931390
CC   From: New York Stem Cell Foundation; New York; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:7225; MPZ; Simple; p.His39Pro (c.116A>C); ClinVar=VCV000217232; 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   Female
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 19-12-24; Version: 7
//