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Cellosaurus GM27890 (CVCL_A2TF)

[Text version]
Cell line name GM27890
Accession CVCL_A2TF
Resource Identification Initiative To cite this cell line use: GM27890 (RRID:CVCL_A2TF)
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=GM27890).
  • Mutation; HGNC; HGNC:14888; DNAJB6; Simple; c.899-3T>G; Zygosity=Heterozygous (Coriell=GM27890).
Disease Nemaline myopathy 3 (NCIt: C129870)
Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C7LZ (GM28910)
Sex of cell Female
Age at sampling 22Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27890
Encyclopedic resources Wikidata; Q105507397
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6