ID   GM26181
AC   CVCL_A2WB
DR   Coriell; GM26181
DR   Wikidata; Q105507044
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; c.5238+1G>A; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM26181).
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.Tyr8107Cysfs*75 (c.24313_24317dupGTGTT); ClinVar=VCV000553170; Zygosity=Heterozygous (Coriell=GM26181).
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)
SX   Female
AG   6Y
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
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