ID   CIMAi001-A
AC   CVCL_YC91
SY   PH1-iPSC-G170R
DR   hPSCreg; CIMAi001-A
DR   Wikidata; Q93453553
RX   PubMed=31715429;
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Centro de Investigacion Medica Aplicada (CIMA); Pamplona; Spain.
CC   Sequence variation: Mutation; HGNC; 341; AGXT; Simple; p.Arg122Ter (c.364C>T); ClinVar=VCV000204097; Zygosity=Heterozygous (PubMed=31715429).
CC   Sequence variation: Mutation; HGNC; 341; AGXT; Simple; p.Gly170Arg (c.508G>A); ClinVar=VCV000040166; Zygosity=Heterozygous (PubMed=31715429).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123212; Primary hyperoxaluria type I
DI   ORDO; Orphanet_93598; Primary hyperoxaluria type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=31715429; DOI=10.1016/j.scr.2019.101626;
RA   Martinez-Turrillas R., Rodriguez-Diaz S., Rodriguez-Marquez P.,
RA   Martin-Mallo A., Salido E., Beck B.B., Prosper F.,
RA   Rodriguez-Madoz J.R.;
RT   "Generation of an induced pluripotent stem cell line (CIMAi001-A) from
RT   a compound heterozygous primary hyperoxaluria type I (PH1) patient
RT   carrying p.G170R and p.R122* mutations in the AGXT gene.";
RL   Stem Cell Res. 41:101626-101626(2019).
//