ID   GM29206
AC   CVCL_F0YL
SY   GM29206*B
DR   Coriell; GM29206
CC   Population: Puerto Rican.
CC   Sequence variation: Mutation; HGNC; HGNC:30372; KLHL40; Simple; p.Arg547His (c.1640G>A); ClinVar=VCV000566161; Zygosity=Heterozygous (Coriell=GM29206).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129871; Nemaline myopathy 8
DI   ORDO; Orphanet_171430; Severe congenital nemaline myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_HQ48 ! GM25494
SX   Male
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
//