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Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1

Authors :
Sang Yoon Moon
Dan Zhang
Shang-Chih Chen
Tina M. Lamey
Jennifer A. Thompson
Terri L. McLaren
John N. De Roach
Fred K. Chen
Samuel McLenachan
Source :
Stem Cell Research, Vol 54, Iss , Pp 102403- (2021)
Publication Year :
2021
Publisher :
Elsevier, 2021.

Abstract

Two human iPSC lines were generated from dermal fibroblasts derived from a patient with retinitis pigmentosa caused by CRB1 mutation using episomal plasmids containing OCT4, SOX2, LIN28, KLF4, L-MYC and mp53DD. These clonal iPSC lines carry compound heterozygous mutations in CRB1 (c.2555 T > C and c.3014A > T). Both lines expressed pluripotency markers, displayed a normal karyotype and demonstrated the ability to differentiate into the three primary germ layers, as well as retinal organoids.

Subjects

Subjects :
Biology (General)
QH301-705.5

Details

Language :
English
ISSN :
18735061
Volume :
54
Issue :
102403-
Database :
Directory of Open Access Journals
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
edsdoj.5a6819c128a64d45bbb7e38085b0ffdf
Document Type :
article
Full Text :
https://doi.org/10.1016/j.scr.2021.102403