ID   PH1-Fib-hiPSC4F1
AC   CVCL_DQ60
SY   PH1-hFib4F-3.23
DR   Wikidata; Q54947348
RX   PubMed=27345794;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Deposito_PH1-hFib4F-3.23_v2.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo_PH1-hiPSC.pdf
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; HGNC:341; AGXT; Simple; p.Ile244Thr (c.731T>C); ClinVar=VCV000005646; Zygosity=Homozygous (PubMed=27345794).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): BNLC
ST   Amelogenin: X,Y
ST   CSF1PO: 10,11
ST   D13S317: 9,11
ST   D16S539: 10,11
ST   D18S51: 14,16
ST   D19S433: 13,14
ST   D21S11: 29,31
ST   D2S1338: 17,24
ST   D3S1358: 14,16
ST   D5S818: 10,12
ST   D7S820: 10,11
ST   D8S1179: 14,15
ST   FGA: 19,20
ST   TH01: 6,9
ST   TPOX: 7,11
ST   vWA: 15,16
DI   NCIt; C123212; Primary hyperoxaluria type I
DI   ORDO; Orphanet_93598; Primary hyperoxaluria type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_DQ61 ! PH1-PBMCs-hiPSC4F1
SX   Male
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 13-07-16; Last updated: 10-04-25; Version: 14
//
RX   PubMed=27345794; DOI=10.1016/j.scr.2015.12.014;
RA   Zapata-Linares N., Rodriguez S., Salido E., Abizanda G., Iglesias E.,
RA   Prosper F., Gonzalez-Aseguinolaza G., Rodriguez-Madoz J.R.;
RT   "Generation and characterization of human iPSC lines derived from a
RT   primary hyperoxaluria type I patient with p.I244T mutation.";
RL   Stem Cell Res. 16:116-119(2016).
//