Cellosaurus cell line VHIRi003-A (CVCL

Cellosaurus VHIRi003-A (CVCL_E7T8)

[Text][XML][JSON]

Cell line name

VHIRi003-A

Synonyms

RP25_UiPSC_mR5F_8

Accession

CVCL_E7T8

Resource Identification Initiative

To cite this cell line use: VHIRi003-A (RRID:CVCL_E7T8)

Comments

Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Vall d'Hebron Institut de Recerca (VHIR); Barcelona; Spain.
Population: Caucasian.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Cell type: Epithelial cell of kidney; CL=CL_0002518.

Sequence variations

Mutation; HGNC; HGNC:21555; EYS; Simple; p.Gly2945Glu (c.8834G>A); ClinVar=VCV00083606; Zygosity=Homozygous (PubMed=39742628).

Disease

Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Sex of cell

Female

Age at sampling

63Y

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=39742628

Markers:

Amelogenin	X
CSF1PO	11,13
D5S818	12,13
D7S820	11
D13S317	11,12
D16S539	9,14
D21S11	26,30
TH01	6,7
TPOX	8,11
vWA	16,17

Web pages

Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+RP25+Documento_Deposito_Lineas_iPSC.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo+-+ANEXO+RP25_UiPSC_mR5F_8.pdf

Publications

PubMed=39742628; DOI=10.1016/j.scr.2024.103645
Helena Isla-Magrane, Maddalen Zufiaurre-Seijo, Miguel Angel Zapata, Josep Garcia-Arumi, Anna Duarri;
Generation of three human induced pluripotent stem cell lines from retinitis pigmentosa 25 patient and two carriers but asymptomatic daughters.
Stem Cell Res. 82:103645-103645(2025)

Cross-references

Cell line databases/resources

hPSCreg; VHIRi003-A

Biological sample resources

BioSamples; SAMEA117479213

Entry history

Entry creation

10-Apr-2025

Last entry update

10-Apr-2025

Version number