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Cellosaurus ADA-iPS2 (CVCL_C104)

[Text version]
Cell line name ADA-iPS2
Synonyms ADA-IPS2
Accession CVCL_C104
Resource Identification Initiative To cite this cell line use: ADA-iPS2 (RRID:CVCL_C104)
Comments From: Children's Hospital Boston; Boston; USA.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:186; ADA; Simple; p.Gly216Arg (c.646G>A); ClinVar=VCV000001968; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:186; ADA; Simple; c.1050_1054delGAAGA; 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_8517 (GM01390)
Sex of cell Male
Age at sampling 3M
Category Induced pluripotent stem cell
Publications

PubMed=18691744; DOI=10.1016/j.cell.2008.07.041; PMCID=PMC2633781
Park I.-H., Arora N., Huo H.-G., Maherali N., Ahfeldt T., Shimamura A., Lensch M.W., Cowan C.A., Hochedlinger K., Daley G.Q.
Disease-specific induced pluripotent stem cells.
Cell 134:877-886(2008)

Patent=US20110151447
Park I.-H., Daley G.Q., Agarwal S., Lerou P.H.
Method to produce induced pluripotent stem (iPS) cells from non-embryonic human cells.
Patent number US20110151447, 23-Jun-2011

Cross-references
Encyclopedic resources Wikidata; Q54608765
Entry history
Entry creation06-Jun-2012
Last entry update19-Dec-2024
Version number24