Cellosaurus cell line IRFMNi002-A (CVCL

Cross-references
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; 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 Osele Ciampi, Elena Romano, Ariela Benigni, Susanna Tomasoni; 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-A
Biological sample resources	BioSamples; SAMEA4891335
Encyclopedic resources	Wikidata; Q94323813
Entry history
Entry creation	07-Sep-2018
Last entry update	19-Dec-2024
Version number	10