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Cellosaurus GM28857 (CVCL_D2ZW)

[Text version]
Cell line name GM28857
Accession CVCL_D2ZW
Resource Identification Initiative To cite this cell line use: GM28857 (RRID:CVCL_D2ZW)
Comments Population: Southeast Asian; Vietnamese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:23230; UBA5; Simple; p.Met57Val (c.169A>G); ClinVar=VCV000265755; Zygosity=Heterozygous (Coriell=GM28857).
  • Mutation; HGNC; HGNC:23230; UBA5; Simple; p.Gln312Leu (c.935A>T); Zygosity=Heterozygous (Coriell=GM28857).
Disease Developmental and epileptic encephalopathy 44 (NCIt: C202547)
Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D2ZX ! GM28942
Sex of cell Male
Age at sampling 2Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28857
Encyclopedic resources Wikidata; Q127380930
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3