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Cellosaurus GM28930 (CVCL_D2ZJ)

[Text version]
Cell line name GM28930
Synonyms GM28930*B
Accession CVCL_D2ZJ
Resource Identification Initiative To cite this cell line use: GM28930 (RRID:CVCL_D2ZJ)
Comments Population: Jewish; Ashkenazi.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:29331; EPG5; Simple_corrected; p.Gln336Arg (c.1007A>G); ClinVar=VCV000192333; Zygosity=Homozygous; Note=By CRISPR/Cas9 (Coriell=GM28930).
Disease Vici syndrome (NCIt: C138174)
Vici syndrome (ORDO: Orphanet_1493)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_VV62 (GM27291)
Sex of cell Male
Age at sampling 8Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM28930
Encyclopedic resources Wikidata; Q127380937
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3