ID   GM29112
AC   CVCL_D3AJ
SY   GM29112*B
DR   Coriell; GM29112
DR   Wikidata; Q127380951
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu7Val (c.20A>T) (E6V); ClinVar=VCV000015333; Zygosity=Heterozygous (Coriell=GM29112).
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.Trp5754Ter (c.17262G>A) (p.Trp4053Ter, c.12159G>A); ClinVar=VCV000373081; Zygosity=Heterozygous (Coriell=GM29112).
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.Tyr8107Asnfs*74 (c.24318_24319insAA); ClinVar=VCV000422612; Zygosity=Heterozygous (Coriell=GM29112).
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)
HI   CVCL_YP72 ! GM26260
SX   Male
AG   1Y9M
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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