Cellosaurus logo
expasy logo

Cellosaurus WISC013i-SCID (CVCL_VS04)

[Text][XML][JSON]
Cell line name WISC013i-SCID
Accession CVCL_VS04
Resource Identification Initiative To cite this cell line use: WISC013i-SCID (RRID:CVCL_VS04)
Comments From: University of Wisconsin; Madison; USA.
Population: African American.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:186; ADA; Simple; c.33+1G>C (IVS1DS,G-C,+1); ClinVar=VCV000001976; Zygosity=Heterozygous; Note=Splice donor mutation (from parent cell line).
  • Mutation; HGNC; HGNC:186; ADA; Simple; p.Arg101Gln (c.302G>A); ClinVar=VCV000001956; Zygosity=Heterozygous (from parent cell line).
Disease Adenosine deaminase deficiency (NCIt: C3962)
Severe combined immunodeficiency due to adenosine deaminase deficiency (ORDO: Orphanet_277)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_GS54 (GM01715)
Sex of cell Male
Age at sampling 3Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) WiCell; wisc013i-scid
Encyclopedic resources Wikidata; Q98134933
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number10