ID   NYSCF-AG0010-01-MR
AC   CVCL_JX01
SY   AG0010-01-MR
DR   Wikidata; Q54931395
CC   From: New York Stem Cell Foundation; New York; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:7739; NEFL; Simple; p.Glu396Lys (c.1186G>A); ClinVar=VCV000066671; Zygosity=Unspecified (NYSCF).
DI   NCIt; C134953; Charcot-Marie-Tooth disease type 2E
DI   ORDO; Orphanet_99939; Autosomal dominant Charcot-Marie-Tooth disease type 2E
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
//