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Cellosaurus GM28910 (CVCL_C7LZ)

[Text version]
Cell line name GM28910
Synonyms GM28910*B
Accession CVCL_C7LZ
Resource Identification Initiative To cite this cell line use: GM28910 (RRID:CVCL_C7LZ)
Comments Population: Jewish; Ashkenazi.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Thr150Ala (c.448A>G); Zygosity=Heterozygous (Coriell=GM28910).
  • Mutation; HGNC; HGNC:14888; DNAJB6; Simple; c.899-3T>G; Zygosity=Heterozygous (from parent cell line).
Disease Nemaline myopathy 3 (NCIt: C129870)
Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A2TF (GM27890)
Sex of cell Female
Age at sampling 22Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM28910
Encyclopedic resources Wikidata; Q117704452
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4