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Cellosaurus PH1-Fib-hiPSC4F1 (CVCL_DQ60)

[Text version]
Cell line name PH1-Fib-hiPSC4F1
Synonyms PH1-hFib4F-3.23
Accession CVCL_DQ60
Resource Identification Initiative To cite this cell line use: PH1-Fib-hiPSC4F1 (RRID:CVCL_DQ60)
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.Ile244Thr (c.731T>C); ClinVar=VCV000005646; Zygosity=Homozygous (PubMed=27345794).
Disease Primary hyperoxaluria type I (NCIt: C123212)
Primary hyperoxaluria type 1 (ORDO: Orphanet_93598)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_DQ61 ! PH1-PBMCs-hiPSC4F1
Sex of cell Male
Age at sampling 37Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX,Y
CSF1PO10,11
D2S133817,24
D3S135814,16
D5S81810,12
D7S82010,11
D8S117914,15
D13S3179,11
D16S53910,11
D18S5114,16
D19S43313,14
D21S1129,31
FGA19,20
TH016,9
TPOX7,11
vWA15,16

Run an STR similarity search on this cell line
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/87/Caracteristicas%20-%20Deposito_PH1-hFib4F-3.23_v2.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/87/Anexo%20-%20Anexo_PH1-hiPSC.pdf
Publications

PubMed=27345794; DOI=10.1016/j.scr.2015.12.014
Zapata-Linares N., Rodriguez S., Salido E., Abizanda G., Iglesias E., Prosper F., Gonzalez-Aseguinolaza G., Rodriguez-Madoz J.R.
Generation and characterization of human iPSC lines derived from a primary hyperoxaluria type I patient with p.I244T mutation.
Stem Cell Res. 16:116-119(2016)

Cross-references
Encyclopedic resources Wikidata; Q54947348
Entry history
Entry creation13-Jul-2016
Last entry update30-Jan-2024
Version number12