Cellosaurus cell line ESi077-A (CVCL

Cellosaurus ESi077-A (CVCL_UJ71)

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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; 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

Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+Solicitud+depo%CC%81sito+PRPF31-MiPS4F3_v2.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo+-+anexos+deposito+li%CC%81nea+PRPF31-MiPS4F3_v2.pdf

Publications

PubMed=30921587; DOI=10.1016/j.scr.2019.101426
Berta de la Cerda Haynes, Andrea Diez-Lloret, Beatriz Ponte-Zuniga, Laura Valles-Saiz, Sofia Melo Calado, Eduardo Rodriguez-Bocanegra, Ana Belen Garcia-Delgado, Marina Moya-Molina, Shom Sanker Bhattacharya, Francisco Javier Diaz-Corrales;
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

10-Apr-2025

Version number