Open AccessGeneration of two induced pluripotent stem cell lines from a patient with dominant PRPF31 mutation and a related non-penetrant carrier
Author(s) -
Samuel McLenachan,
Dan Zhang,
Xiao Zhang,
ShangChih Chen,
Tina M. Lamey,
Jennifer A. Thompson,
Terri L. McLaren,
John N. De Roach,
Sue Fletcher,
Fred K. Chen
Publication year - 2018
Publication title -
stem cell research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.654
H-Index - 65
eISSN - 1876-7753
pISSN - 1873-5061
DOI - 10.1016/j.scr.2018.11.018
Subject(s) - biology , penetrant (biochemical) , induced pluripotent stem cell , stem cell , mutation , genetics , embryonic stem cell , microbiology and biotechnology , gene
We report the generation of the human iPSC line LEIi008-A from a patient with retinitis pigmentosa-11 caused by a dominant nonsense mutation in the PRPF31 gene (NM_015629.3:c.1205C > A p.(Ser402Ter)). A second line, LEIi009-A, was generated from a related non-penetrant carrier of the same mutation with no retinal disease. Reprogramming of patient dermal fibroblasts using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA generated cell lines displaying pluripotent stem cell marker expression, a normal karyotype and the capability to differentiate into the three germ layer lineages. Resource table.
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