Cellosaurus cell line ESi132-A (CVCL

Cellosaurus ESi132-A (CVCL_E3V2)

[Text version]

Cell line name

ESi132-A

Synonyms

PRPF3181-MiPS4F5

Accession

CVCL_E3V2

Resource Identification Initiative

To cite this cell line use: ESi132-A (RRID:CVCL_E3V2)

Comments

From: Institut d'Investigacio Biomedica de Bellvitge (IDIBELL); Barcelona; Spain.
From: Centro Andaluz de Biologia Molecular y Medicina Regenerativa (CABIMER); Sevilla; Spain.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; HGNC:15446; PRPF31; Simple; p.Trp55Ter (c.165G>A); ClinVar=VCV000804153; Zygosity=Heterozygous (PubMed=39755010).

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

43Y

Category

Induced pluripotent stem cell

STR profile

Source(s): BNLC

Markers:

Amelogenin	X
CSF1PO	11,12
D2S1338	17
D3S1358	14,18
D5S818	11,12
D7S820	9,11
D8S1179	10,13
D13S317	11
D16S539	11,12
D18S51	13,14
D19S433	12,15.2
D21S11	30,31
FGA	21
TH01	7,9
TPOX	10,11
vWA	16,18

Web pages

Provider; BNLC; -; https://www.isciii.es/documents/20119/0/anexos+deposito+l%C3%ADnea+PRPF31-MiPS4F5.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/879042/Documento_Deposito_+PRPF3181-MiPS4F5+01.10.24+sg.pdf

Publications

PubMed=39755010; DOI=10.1016/j.scr.2024.103623
Caballano-Infantes E., Clauzon L., de la Cerda Haynes B., Diaz-Corrales F.J.
Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene.
Stem Cell Res. 82:103623-103623(2025)

Cross-references

Cell line databases/resources

hPSCreg; ESi132-A

Biological sample resources

BioSamples; SAMEA115425275

Entry history

Entry creation

19-Dec-2024

Last entry update

10-Apr-2025

Version number