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Cellosaurus UiPSC-009 (CVCL_RH93)

[Text version]
Cell line name UiPSC-009
Synonyms UC-009
Accession CVCL_RH93
Resource Identification Initiative To cite this cell line use: UiPSC-009 (RRID:CVCL_RH93)
Comments Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Cell type: Epithelial cell of kidney; CL=CL_0002518.
Sequence variations
  • Mutation; HGNC; HGNC:4827; HBB; Simple; p.Phe42Leufs*19 (c.126_129delCTTT) (c.125_128delTCTT) (CD 41/42); ClinVar=VCV000015417; Zygosity=Heterozygous (PubMed=23940595).
  • Mutation; HGNC; HGNC:4827; HBB; Simple; c.316-197C>T (IVS2-654C>T); ClinVar=VCV000015458; Zygosity=Heterozygous (PubMed=23940595).
Disease Beta thalassemia (NCIt: C34375)
Beta-thalassemia major (ORDO: Orphanet_231214)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y
Category Induced pluripotent stem cell
Publications

PubMed=23940595; DOI=10.1371/journal.pone.0070573; PMCID=PMC3734275
Xue Y.-T., Cai X.-J., Wang L.-L., Liao B.-J., Zhang H., Shan Y.-L., Chen Q.-Y., Zhou T.-C., Li X.-R., Hou J.-D., Chen S.-B., Luo R.-P., Qin D.-J., Pei D.-Q., Pan G.-J.
Generating a non-integrating human induced pluripotent stem cell bank from urine-derived cells.
PLoS ONE 8:E70573-E70573(2013)

Cross-references
Encyclopedic resources Wikidata; Q54990192
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number13