ID   GM25335
AC   CVCL_HQ17
DR   Coriell; GM25335
DR   Wikidata; Q54853876
CC   Sequence variation: Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Gly253Asp (c.758G>A); Zygosity=Heterozygous (Coriell=GM25335).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129870; Nemaline myopathy 3
DI   ORDO; Orphanet_171436; Typical nemaline myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_HQ18 ! GM25336
SX   Female
AG   6Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 10
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