ID   GM27144
AC   CVCL_XC53
DR   Coriell; GM27144
DR   Wikidata; Q93933035
CC   Population: Caucasian; English/German/Irish.
CC   Sequence variation: Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Pro72Arg (c.215C>G); ClinVar=VCV000974929; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27144).
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_XC54 ! GM27145
SX   Male
AG   8Y
CA   Transformed cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 11
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