ID   GM25494
AC   CVCL_HQ48
DR   Coriell; GM25494
DR   Wikidata; Q54853985
CC   Sequence variation: Mutation; HGNC; HGNC:30372; KLHL40; Simple; p.Arg547His (c.1640G>A); ClinVar=VCV000566161; Zygosity=Heterozygous (Coriell=GM25494).
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)
SX   Male
AG   35Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 11
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