ID   GM26261
AC   CVCL_YP73
DR   Coriell; GM26261
DR   Wikidata; Q93932647
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu7Val (c.20A>T) (E6V); ClinVar=VCV000015333; Zygosity=Heterozygous (Coriell=GM26261).
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.Trp5754Ter (c.17262G>A) (p.Trp4053Ter, c.12159G>A); ClinVar=VCV000373081; Zygosity=Heterozygous (Coriell=GM26261).
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.Tyr8107Asnfs*74 (c.24318_24319insAA); ClinVar=VCV000422612; Zygosity=Heterozygous (Coriell=GM26261).
CC   Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
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_YP72 ! GM26260
SX   Male
AG   1Y9M
CA   Finite cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 10
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