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Cellosaurus GM29112 (CVCL_D3AJ)

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Cell line name GM29112
Synonyms GM29112*B
Accession CVCL_D3AJ
Resource Identification Initiative To cite this cell line use: GM29112 (RRID:CVCL_D3AJ)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu7Val (c.20A>T) (E6V); ClinVar=VCV000015333; Zygosity=Heterozygous (Coriell=GM29112).
  • Mutation; HGNC; HGNC:7720; NEB; Simple; p.Trp5754Ter (c.17262G>A) (p.Trp4053Ter, c.12159G>A); ClinVar=VCV000373081; Zygosity=Heterozygous (Coriell=GM29112).
  • Mutation; HGNC; HGNC:7720; NEB; Simple; p.Tyr8107Asnfs*74 (c.24318_24319insAA); ClinVar=VCV000422612; Zygosity=Heterozygous (Coriell=GM29112).
Disease Nemaline myopathy 2 (NCIt: C118784)
Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_YP72 (GM26260)
Sex of cell Male
Age at sampling 1Y9M
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM29112
Encyclopedic resources Wikidata; Q127380951
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3