Generation of two induced pluripotent stem cell lines from a patient with Stargardt Macular Dystrophy caused by the c.768G>T and c.6079C>T mutations in ABCA4

Luke Jennings; Dan Zhang; Shang Chih Chen; Sang Yoon Moon; Tina Lamey; Jennifer A. Thompson; Terri McLaren; John N. De Roach; Fred K. Chen; Samuel McLenachan

doi:10.1016/j.scr.2020.101947

Generation of two induced pluripotent stem cell lines from a patient with Stargardt Macular Dystrophy caused by the c.768G>T and c.6079C>T mutations in ABCA4

Luke Jennings, Dan Zhang, Shang Chih Chen, Sang Yoon Moon, Tina Lamey, Jennifer A. Thompson, Terri McLaren, John N. De Roach, Fred K. Chen, Samuel McLenachan

Centre for Ophthalmology and Visual Science (affiliated with the Lions Eye Institute)

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

Abstract

Autosomal recessive Stargardt disease is the most common cause of inherited retinal disease. In this report, we describe the generation and characterization of two human induced pluripotent stem cell (iPSC) lines from a patient with compound heterozygous mutations in the ABCA4 gene (c.[768G>T];[6079C>T]). Patient dermal fibroblasts were reprogrammed using episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for P53. The clonal iPSC lines LEIi012-A and LEIi012-B were established. Both lines had a normal karyotype, displayed iPSC morphology, expressed pluripotency genes at similar levels to control iPSC and displayed trilineage differentiation potential during embryoid body differentiation.

Original language	English
Article number	101947
Journal	Stem Cell Research
Volume	48
DOIs	https://doi.org/10.1016/j.scr.2020.101947
Publication status	Published - Oct 2020

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1016/j.scr.2020.101947Licence: CC BY-NC-ND

Cite this

Jennings, L., Zhang, D., Chen, S. C., Moon, S. Y., Lamey, T., Thompson, J. A., McLaren, T., De Roach, J. N., Chen, F. K., & McLenachan, S. (2020). Generation of two induced pluripotent stem cell lines from a patient with Stargardt Macular Dystrophy caused by the c.768G>T and c.6079C>T mutations in ABCA4. Stem Cell Research, 48, Article 101947. https://doi.org/10.1016/j.scr.2020.101947

@article{31d8d2a7cee04e81afde71bcc0fd44b5,

title = "Generation of two induced pluripotent stem cell lines from a patient with Stargardt Macular Dystrophy caused by the c.768G>T and c.6079C>T mutations in ABCA4",

abstract = "Autosomal recessive Stargardt disease is the most common cause of inherited retinal disease. In this report, we describe the generation and characterization of two human induced pluripotent stem cell (iPSC) lines from a patient with compound heterozygous mutations in the ABCA4 gene (c.[768G>T];[6079C>T]). Patient dermal fibroblasts were reprogrammed using episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for P53. The clonal iPSC lines LEIi012-A and LEIi012-B were established. Both lines had a normal karyotype, displayed iPSC morphology, expressed pluripotency genes at similar levels to control iPSC and displayed trilineage differentiation potential during embryoid body differentiation.",

author = "Luke Jennings and Dan Zhang and Chen, {Shang Chih} and Moon, {Sang Yoon} and Tina Lamey and Thompson, {Jennifer A.} and Terri McLaren and {De Roach}, {John N.} and Chen, {Fred K.} and Samuel McLenachan",

year = "2020",

month = oct,

doi = "10.1016/j.scr.2020.101947",

language = "English",

volume = "48",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Pergamon",

}

TY - JOUR

T1 - Generation of two induced pluripotent stem cell lines from a patient with Stargardt Macular Dystrophy caused by the c.768G>T and c.6079C>T mutations in ABCA4

AU - Jennings, Luke

AU - Zhang, Dan

AU - Chen, Shang Chih

AU - Moon, Sang Yoon

AU - Lamey, Tina

AU - Thompson, Jennifer A.

AU - McLaren, Terri

AU - De Roach, John N.

AU - Chen, Fred K.

AU - McLenachan, Samuel

PY - 2020/10

Y1 - 2020/10

N2 - Autosomal recessive Stargardt disease is the most common cause of inherited retinal disease. In this report, we describe the generation and characterization of two human induced pluripotent stem cell (iPSC) lines from a patient with compound heterozygous mutations in the ABCA4 gene (c.[768G>T];[6079C>T]). Patient dermal fibroblasts were reprogrammed using episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for P53. The clonal iPSC lines LEIi012-A and LEIi012-B were established. Both lines had a normal karyotype, displayed iPSC morphology, expressed pluripotency genes at similar levels to control iPSC and displayed trilineage differentiation potential during embryoid body differentiation.

AB - Autosomal recessive Stargardt disease is the most common cause of inherited retinal disease. In this report, we describe the generation and characterization of two human induced pluripotent stem cell (iPSC) lines from a patient with compound heterozygous mutations in the ABCA4 gene (c.[768G>T];[6079C>T]). Patient dermal fibroblasts were reprogrammed using episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for P53. The clonal iPSC lines LEIi012-A and LEIi012-B were established. Both lines had a normal karyotype, displayed iPSC morphology, expressed pluripotency genes at similar levels to control iPSC and displayed trilineage differentiation potential during embryoid body differentiation.

UR - http://www.scopus.com/inward/record.url?scp=85089371104&partnerID=8YFLogxK

U2 - 10.1016/j.scr.2020.101947

DO - 10.1016/j.scr.2020.101947

M3 - Article

C2 - 32810830

AN - SCOPUS:85089371104

SN - 1873-5061

VL - 48

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 101947

ER -

Generation of two induced pluripotent stem cell lines from a patient with Stargardt Macular Dystrophy caused by the c.768G>T and c.6079C>T mutations in ABCA4

Abstract

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this