ID   GM27890
AC   CVCL_A2TF
DR   Coriell; GM27890
DR   Wikidata; Q105507397
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Thr150Ala (c.448A>G); Zygosity=Heterozygous (Coriell=GM27890).
CC   Sequence variation: Mutation; HGNC; HGNC:14888; DNAJB6; Simple; c.899-3T>G; Zygosity=Heterozygous (Coriell=GM27890).
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)
SX   Female
AG   22Y
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
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