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Cellosaurus CIMAi001-A (CVCL_YC91)

[Text version]
Cell line name CIMAi001-A
Synonyms PH1-iPSC-G170R
Accession CVCL_YC91
Resource Identification Initiative To cite this cell line use: CIMAi001-A (RRID:CVCL_YC91)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Centro de Investigacion Medica Aplicada (CIMA); Pamplona; Spain.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 341; AGXT; Simple; p.Arg122Ter (c.364C>T); ClinVar=VCV000204097; Zygosity=Heterozygous (PubMed=31715429).
  • Mutation; HGNC; 341; AGXT; Simple; p.Gly170Arg (c.508G>A); ClinVar=VCV000040166; Zygosity=Heterozygous (PubMed=31715429).
Disease Primary hyperoxaluria type I (NCIt: C123212)
Primary hyperoxaluria type 1 (ORDO: Orphanet_93598)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 30Y
Category Induced pluripotent stem cell
Publications

PubMed=31715429; DOI=10.1016/j.scr.2019.101626
Martinez-Turrillas R., Rodriguez-Diaz S., Rodriguez-Marquez P., Martin-Mallo A., Salido E., Beck B.B., Prosper F., Rodriguez-Madoz J.R.
Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous primary hyperoxaluria type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene.
Stem Cell Res. 41:101626-101626(2019)

Cross-references
Cell line databases/resources hPSCreg; CIMAi001-A
Encyclopedic resources Wikidata; Q93453553
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number9