ID   NYSCF-AG0002-01-MR
AC   CVCL_B7E9
SY   AG0002-01-MR
DR   Wikidata; Q114312618
CC   From: New York Stem Cell Foundation; New York; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:16877; MFN2; Simple; p.His361Tyr (c.1081C>T); ClinVar=VCV000637315; Zygosity=Unspecified (NYSCF).
DI   NCIt; C150646; Charcot-Marie-Tooth disease type 2A2A
DI   ORDO; Orphanet_99947; Autosomal dominant Charcot-Marie-Tooth disease type 2A2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 4
//