ID   GM25853
AC   CVCL_HK66
DR   Coriell; GM25853
DR   Wikidata; Q54854027
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; c.1152+1G>A; ClinVar=VCV000095104; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM25853).
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; c.17013+1G>T; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM25853).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C118784; Nemaline myopathy 2
DI   ORDO; Orphanet_171436; Typical nemaline myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_HK67 ! GM25854
SX   Male
AG   7Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 13
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