Cellosaurus cell line CSUASOi004-A (CVCL

Cellosaurus CSUASOi004-A (CVCL_YU18)

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Cell line name

CSUASOi004-A

Synonyms

PRPF6-BiPS

Accession

CVCL_YU18

Resource Identification Initiative

To cite this cell line use: CSUASOi004-A (RRID:CVCL_YU18)

Comments

From: Central South University, Aier School of Ophthalmology; Changsha; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; HGNC:15860; PRPF6; Simple; p.Arg900His (c.2699G>A); ClinVar=VCV000842292; Zygosity=Heterozygous (PubMed=32335390).

Disease

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

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_C4SD (CSUASOi004-A-1)

Sex of cell

Female

Age at sampling

15Y

Category

Induced pluripotent stem cell

Publications

PubMed=32335390; DOI=10.1016/j.scr.2020.101793
Ya-Lan Zhou, Yu-Tong Jing, Sheng-Ru Mao, Jian Liu, Ze-Kai Cui, Yi-Ni Wang, Juan Chen, Hon-Fai Chan, Shi-Bo Tang, Jian-Su Chen;
Establishment of induced pluripotent stem cell line CSUASOi004-A by reprogramming peripheral blood mononuclear cells of a PRPF6-related dominant retinitis pigmentosa patient.
Stem Cell Res. 45:101793-101793(2020)

PubMed=36103774; DOI=10.1016/j.scr.2022.102911
Yu-Qin Liang, Xi-Hao Sun, Chun-Wen Duan, Ya-Lan Zhou, Ze-Kai Cui, Cheng-Cheng Ding, Jia-Ning Gu, Sheng-Ru Mao, Shang-Li Ji, Hon-Fai Chan, Shi-Bo Tang, Jian-Su Chen;
Generation of a gene-corrected human iPSC line (CSUASOi004-A-1) from a retinitis pigmentosa patient with heterozygous c.2699 G>A mutation in the PRPF6 gene.
Stem Cell Res. 64:102911-102911(2022)

Cross-references

Cell line databases/resources

hPSCreg; CSUASOi004-A
SKIP; SKIP005749

Encyclopedic resources

Wikidata; Q93459764

Entry history

Entry creation

12-Mar-2020

Last entry update

19-Dec-2024

Version number