ID   NYSCF-AG0008-01-MR
AC   CVCL_JW99
SY   AG0008-01-MR
DR   Wikidata; Q54931393
CC   From: New York Stem Cell Foundation; New York; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:16877; MFN2; Simple; p.Trp740Ser (c.2219G>C); ClinVar=VCV000002269; 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   Female
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 19-12-24; Version: 9
//