Cellosaurus cell line PH1-PBMCs-hiPSC4F1 (CVCL

Cellosaurus PH1-PBMCs-hiPSC4F1 (CVCL_DQ61)

[Text version]

Cell line name

PH1-PBMCs-hiPSC4F1

Synonyms

PH1-hPBMC4F-2.4

Accession

CVCL_DQ61

Resource Identification Initiative

To cite this cell line use: PH1-PBMCs-hiPSC4F1 (RRID:CVCL_DQ61)

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; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; 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_DQ60 ! PH1-Fib-hiPSC4F1

Sex of cell

Male

Age at sampling

37Y

Category

Induced pluripotent stem cell

STR profile

Source(s): BNLC

Markers:

Amelogenin	X,Y
CSF1PO	10,11
D2S1338	17,24
D3S1358	14,16
D5S818	10,12
D7S820	10,11
D8S1179	14,15
D13S317	9,11
D16S539	10,11
D18S51	14,16
D19S433	13,14
D21S11	29,31
FGA	19,20
TH01	6,9
TPOX	7,11
vWA	15,16

Web pages

https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/88/Caracteristicas%20-%20Deposito_PH1-hPBMC4F-2.4-v2.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/88/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; Q54947349

Entry history

Entry creation

13-Jul-2016

Last entry update

19-Dec-2024

Version number