Abstract
Variants in RCBTB1 have been implicated in inherited retinal disease (IRD). Here, we generated induced pluripotent stem cells (iPSCs) from a 45-year-old female IRD patient harbouring compound heterozygous mutations in the RCBTB1 gene. Episomal plasmids containing OCT4, SOX2, KLF4, MYCL, LIN28, shRNA for TP53 and mir302/367 microRNA were employed to conduct the reprogramming of primary dermal fibroblasts. These iPSC lines provide a useful model for further investigations on the pathophysiological role of mutations in the RCBTB1 gene in IRD.
| Original language | English |
|---|---|
| Article number | 101549 |
| Journal | Stem Cell Research |
| Volume | 40 |
| DOIs | |
| Publication status | Published - 1 Oct 2019 |
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Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations. / Huang, Zhiqin; Zhang, Dan; Chen, Shang Chih; Thompson, Jennifer A.; McLaren, Terri; Lamey, Tina; De Roach, John N.; McLenachan, Samuel; Chen, Fred K.
In: Stem Cell Research, Vol. 40, 101549, 01.10.2019.Research output: Contribution to journal › Article
TY - JOUR
T1 - Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations
AU - Huang, Zhiqin
AU - Zhang, Dan
AU - Chen, Shang Chih
AU - Thompson, Jennifer A.
AU - McLaren, Terri
AU - Lamey, Tina
AU - De Roach, John N.
AU - McLenachan, Samuel
AU - Chen, Fred K.
PY - 2019/10/1
Y1 - 2019/10/1
N2 - Variants in RCBTB1 have been implicated in inherited retinal disease (IRD). Here, we generated induced pluripotent stem cells (iPSCs) from a 45-year-old female IRD patient harbouring compound heterozygous mutations in the RCBTB1 gene. Episomal plasmids containing OCT4, SOX2, KLF4, MYCL, LIN28, shRNA for TP53 and mir302/367 microRNA were employed to conduct the reprogramming of primary dermal fibroblasts. These iPSC lines provide a useful model for further investigations on the pathophysiological role of mutations in the RCBTB1 gene in IRD.
AB - Variants in RCBTB1 have been implicated in inherited retinal disease (IRD). Here, we generated induced pluripotent stem cells (iPSCs) from a 45-year-old female IRD patient harbouring compound heterozygous mutations in the RCBTB1 gene. Episomal plasmids containing OCT4, SOX2, KLF4, MYCL, LIN28, shRNA for TP53 and mir302/367 microRNA were employed to conduct the reprogramming of primary dermal fibroblasts. These iPSC lines provide a useful model for further investigations on the pathophysiological role of mutations in the RCBTB1 gene in IRD.
UR - http://www.scopus.com/inward/record.url?scp=85071727286&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2019.101549
DO - 10.1016/j.scr.2019.101549
M3 - Article
VL - 40
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
M1 - 101549
ER -