Home  |  Contact

Cellosaurus IRFMNi002-B (CVCL_UJ77)

[Text version]

Cell line name IRFMNi002-B
Synonyms PRM#18
Accession CVCL_UJ77
Resource Identification Initiative To cite this cell line use: IRFMNi002-B (RRID:CVCL_UJ77)
Comments From: Istituto di Ricerche Farmacologiche Mario Negri (IRCCS); Bergamo; Italy.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 8616; PAX2; Simple; p.Gly189Arg (c.565G>A); ClinVar=VCV000155928; Zygosity=Heterozygous (PubMed=30399566).
Disease Focal segmental glomerulosclerosis (NCIt: C37308)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_VL43 ! IRFMNi002-A
Sex of cell Female
Age at sampling 69Y
Category Induced pluripotent stem cell

PubMed=30399566; DOI=10.1016/j.scr.2018.10.018
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)

Cell line databases/resources hPSCreg; IRFMNi002-B
Biological sample resources BioSamples; SAMEA4975314
Other Wikidata; Q94323817
Entry history
Entry creation25-Feb-2019
Last entry update20-May-2021
Version number5