ID   NYSCF-AG0011-01-MR
AC   CVCL_JX02
SY   AG0011-01-MR
DR   Wikidata; Q54931396
CC   From: New York Stem Cell Foundation; New York; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:16873; FIG4; Simple; p.Ile41Thr (c.122T>C); ClinVar=VCV000001721; Zygosity=Unspecified (NYSCF).
CC   Sequence variation: Mutation; HGNC; HGNC:16873; FIG4; Simple; p.Arg183Ter (c.547C>T); ClinVar=VCV000001723; Zygosity=Unspecified (NYSCF).
DI   NCIt; C134954; Charcot-Marie-Tooth disease type 4J
DI   ORDO; Orphanet_139515; Charcot-Marie-Tooth disease type 4J
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: 10
//