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Cellosaurus GM21873 (CVCL_D339)

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Cell line name GM21873
Accession CVCL_D339
Resource Identification Initiative To cite this cell line use: GM21873 (RRID:CVCL_D339)
Comments Derived from site: In situ; Amniotic fluid; UBERON=UBERON_0000173.
Sequence variations
  • Mutation; HGNC; HGNC:27230; ESCO2; Simple; p.Lys253fs*12 (c.752delA); Zygosity=Heterozygous (Coriell=GM21873).
  • Mutation; HGNC; HGNC:27230; ESCO2; Simple; c.1132-7A>G (IVS6-7A>G) (p.I377_378insLX); ClinVar=VCV000021234; Zygosity=Heterozygous (Coriell=GM21873).
Disease Roberts-SC phocomelia syndrome (NCIt: C4681)
Roberts syndrome (ORDO: Orphanet_3103)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 20FW
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM21873
Encyclopedic resources Wikidata; Q54852193
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number15