ID   GM25854
AC   CVCL_HK67
DR   Coriell; GM25854
DR   Wikidata; Q54854028
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; c.1152+1G>A; ClinVar=VCV000095104; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM25854).
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; c.17013+1G>T; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM25854).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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_HK66 ! GM25853
SX   Male
AG   7Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 14
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