ID   NYSCF-AG0016-01-MR
AC   CVCL_JX07
SY   AG0016-01-MR
DR   Wikidata; Q54931401
CC   From: New York Stem Cell Foundation; New York; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:7739; NEFL; Simple; p.Asn98Ser (c.293A>G); ClinVar=VCV000041236; 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   Female
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 19-12-24; Version: 7
//