ID   GM25308
AC   CVCL_HK63
DR   Coriell; GM25308
DR   Wikidata; Q54853869
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.Gln7398Ter (c.22192C>T) (p.Gln5662Ter, c.16984C>T); ClinVar=VCV000556628; Zygosity=Heterozygous (Coriell=GM25308).
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.Leu8414Ter (c.25241T>G) (p.Leu6523Ter, c.19568T>G); ClinVar=VCV000633334; Zygosity=Heterozygous (Coriell=GM25308).
CC   Derived from site: In situ; Oral cavity, tonsil; UBERON=UBERON_0002372.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C118784; Nemaline myopathy 2
DI   ORDO; Orphanet_171436; Typical nemaline myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
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