Cellosaurus cell line ESi077-A (CVCL

Cellosaurus ESi077-A (CVCL_UJ71)

[Text version]

Cell line name

ESi077-A

Synonyms

OF0081-PRPF31c3; PRPF31-MiPS4F3; CABi001-A

Accession

CVCL_UJ71

Resource Identification Initiative

To cite this cell line use: ESi077-A (RRID:CVCL_UJ71)

Comments

Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Centro Andaluz de Biologia Molecular y Medicina Regenerativa (CABIMER); Sevilla; Spain.
Population: Caucasian.
Caution: The second allele of D7S820 is unreadable in the cell line documentation.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; 15446; PRPF31; Simple; p.Trp55Ter (c.165G>A); ClinVar=VCV000804153; Zygosity=Heterozygous (PubMed=30921587).

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

70Y

Category

Induced pluripotent stem cell

STR profile

Source(s): BNLC

Markers:

Amelogenin	X
CSF1PO	8,12
D5S818	11,12
D7S820	9
D13S317	8,11
D16S539	9,12
D21S11	30,31
TH01	9,9.3
TPOX	10,11
vWA	17,18

Web pages

https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/205/Caracteristicas%20-%20Solicitud%20depo%cc%81sito%20PRPF31-MiPS4F3_v2.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/205/Anexo%20-%20anexos%20deposito%20li%cc%81nea%20PRPF31-MiPS4F3_v2.pdf

Publications

PubMed=30921587; DOI=10.1016/j.scr.2019.101426
de la Cerda Haynes B., Diez-Lloret A., Ponte-Zuniga B., Valles-Saiz L., Calado S.M., Rodriguez-Bocanegra E., Garcia-Delgado A.B., Moya-Molina M., Bhattacharya S.S., Diaz-Corrales F.J.
Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene.
Stem Cell Res. 36:101426-101426(2019)

Cross-references

Cell line databases/resources

hPSCreg; ESi077-A

Biological sample resources

BioSamples; SAMEA7484330

Encyclopedic resources

Wikidata; Q93545418

Entry history

Entry creation

25-Feb-2019

Last entry update

30-Jan-2024

Version number