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Cellosaurus GM28074 (CVCL_D2ZZ)

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Cell line name GM28074
Accession CVCL_D2ZZ
Resource Identification Initiative To cite this cell line use: GM28074 (RRID:CVCL_D2ZZ)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:14631; ADAMTSL2; Simple; p.Arg61His (c.182G>A); ClinVar=VCV003767152; Zygosity=Heterozygous (Coriell=GM28074).
  • Mutation; HGNC; HGNC:14631; ADAMTSL2; Simple; p.Ala165Thr (c.493G>A); ClinVar=VCV000524194; Zygosity=Heterozygous (Coriell=GM28074).
Disease Geleophysic dysplasia 1 (NCIt: C202607)
Geleophysic dysplasia (ORDO: Orphanet_2623)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1Y6M
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28074
Encyclopedic resources Wikidata; Q127380911
Entry history
Entry creation30-Jan-2024
Last entry update27-Nov-2025
Version number4