ID   UiPSC-009
AC   CVCL_RH93
SY   UC-009
DR   Wikidata; Q54990192
RX   PubMed=23940595;
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; p.Phe42Leufs*19 (c.126_129delCTTT) (c.125_128delTCTT) (CD 41/42); ClinVar=VCV000015417; Zygosity=Heterozygous (PubMed=23940595).
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; c.316-197C>T (IVS2-654C>T); ClinVar=VCV000015458; Zygosity=Heterozygous (PubMed=23940595).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
CC   Cell type: Epithelial cell of kidney; CL=CL_0002518.
DI   NCIt; C34375; Beta thalassemia
DI   ORDO; Orphanet_231214; Beta-thalassemia major
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 13
//
RX   PubMed=23940595; DOI=10.1371/journal.pone.0070573; PMCID=PMC3734275;
RA   Xue Y.-T., Cai X.-J., Wang L.-L., Liao B.-J., Zhang H., Shan Y.-L.,
RA   Chen Q.-Y., Zhou T.-C., Li X.-R., Hou J.-D., Chen S.-B., Luo R.-P.,
RA   Qin D.-J., Pei D.-Q., Pan G.-J.;
RT   "Generating a non-integrating human induced pluripotent stem cell bank
RT   from urine-derived cells.";
RL   PLoS ONE 8:E70573-E70573(2013).
//