ID   GM26093
AC   CVCL_IU32
DR   Coriell; GM26093
DR   Wikidata; Q54854072
CC   Population: Chinese and Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; c.9619-2A>G; ClinVar=VCV000379231; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM26093).
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.His8159Glnfs*8 (c.24473_24476dupAACA); Zygosity=Heterozygous (Coriell=GM26093).
CC   Derived from site: In situ; Hip, skin; UBERON=UBERON_0001554.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C118784; Nemaline myopathy 2
DI   ORDO; Orphanet_171436; Typical nemaline myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_HK59 ! GM25172
SX   Male
AG   6Y
CA   Finite cell line
DT   Created: 03-03-17; Last updated: 19-12-24; Version: 13
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