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Cellosaurus IRFMNi002-A (CVCL_VL43)

[Text version]
Cell line name IRFMNi002-A
Synonyms PRM#14
Accession CVCL_VL43
Resource Identification Initiative To cite this cell line use: IRFMNi002-A (RRID:CVCL_VL43)
Comments From: Istituto di Ricerche Farmacologiche Mario Negri (IRCCS); Bergamo; Italy.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 8616; PAX2; Simple; p.Gly189Arg (c.565G>A); ClinVar=VCV000155928; Zygosity=Heterozygous (PubMed=30399566).
Disease Focal segmental glomerulosclerosis 7 (NCIt: C202604)
Genetic steroid-resistant nephrotic syndrome (ORDO: Orphanet_656)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_UJ77 ! IRFMNi002-B
Sex of cell Female
Age at sampling 69Y
Category Induced pluripotent stem cell
Publications

PubMed=30399566; DOI=10.1016/j.scr.2018.10.018; PMCID=PMC6288238
Ciampi O., Romano E., Benigni A., Tomasoni S.
Generation of two isogenic iPS cell lines (IRFMNi002-A and IRFMNi002-B) from a patient affected by focal segmental glomerulosclerosis carrying a heterozygous c.565G>A mutation in PAX2 gene.
Stem Cell Res. 33:175-179(2018)

Cross-references
Cell line databases/resources hPSCreg; IRFMNi002-A
Biological sample resources BioSamples; SAMEA4891335
Encyclopedic resources Wikidata; Q94323813
Entry history
Entry creation07-Sep-2018
Last entry update02-May-2024
Version number9