ID   ASP1-UPIC
AC   CVCL_C3G3
SY   Alport Syndrome Patient 1-Urine Podocyte Immortalized Cell line
DR   GEO; GSM3933297
DR   GEO; GSM3933298
DR   GEO; GSM3933299
DR   Wikidata; Q114310630
RX   PubMed=32652570;
CC   Sequence variation: Mutation; HGNC; HGNC:2204; COL4A3; Simple; p.Glu647Argfs*45 (c.1937dupG); ClinVar=VCV000949881; Zygosity=Heterozygous (PubMed=32652570).
CC   Sequence variation: Mutation; HGNC; HGNC:2204; COL4A3; Simple; p.Gly1602Alafs*13 (c.4803delT); ClinVar=VCV000550931; Zygosity=Heterozygous (PubMed=32652570).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P03070; SV40 large T antigen.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P00557; Escherichia coli hygromycin-B 4-O-kinase (hph) (HygR).
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P00552; Transposon Tn5 neo.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=tsA58).
CC   Omics: Transcriptome analysis by RNAseq.
CC   Miscellaneous: As no cell line name was provided in the paper, we assigned the name based on the abbreviation of the cell line description.
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
CC   Cell type: Podocyte; CL=CL_0000653.
DI   NCIt; C34842; Alport syndrome
DI   ORDO; Orphanet_63; Alport syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   14Y
CA   Conditionally immortalized cell line
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 7
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RX   PubMed=32652570; DOI=10.1002/path.5496; PMCID=PMC7589231;
RA   Iampietro C., Bellucci L., Arcolino F.O., Arigoni M., Alessandri L.,
RA   Gomez Y., Papadimitriou E., Calogero R.A., Cocchi E.,
RA   van den Heuvel L.P.W.J., Levtchenko E.N., Bussolati B.;
RT   "Molecular and functional characterization of urine-derived podocytes
RT   from patients with Alport syndrome.";
RL   J. Pathol. 252:88-100(2020).
//