Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene

Di Huang; Dan Zhang; Shang Chih Chen; May Thandar Aung-Htut; Tina M. Lamey; Jennifer A. Thompson; Terri L. McLaren; John N. De Roach; Sue Fletcher; Steve D. Wilton; Fred K. Chen; Samuel McLenachan

doi:10.1016/j.scr.2021.102448

Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene

Di Huang, Dan Zhang, Shang Chih Chen, May Thandar Aung-Htut, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Sue Fletcher, Steve D. Wilton, Fred K. Chen, Samuel McLenachan

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

Abstract

Stargardt disease (STGD1) is the most common inherited retinal dystrophy and ABCA4 c.546-–10 T>C is the most commonly reported splice mutation. Here, we generated and characterized two induced pluripotent stem cell (iPSC) lines from a STGD1 patient with compound heterozygous mutations in ABCA4 (c.[5461-10 T > C;5603A > T];[4163 T > C;455G > A]). Episomal vectors containing OCT4, SOX2, KLF4, L-MYC, LIN28 and mp53DD were employed to conduct the reprogramming of patient-derived fibroblasts. Both lines had a normal karyotype, displayed iPSC morphology, expressed pluripotency markers and showed trilineage differentiation potential. These lines can provide a powerful platform for further investigating the pathophysiological consequences of mutations in ABCA4.

Original language	English
Article number	102448
Journal	Stem Cell Research
Volume	54
DOIs	https://doi.org/10.1016/j.scr.2021.102448
Publication status	Published - Jul 2021

Access to Document

10.1016/j.scr.2021.102448Licence: CC BY-NC-ND

Cite this

Huang, D., Zhang, D., Chen, S. C., Aung-Htut, M. T., Lamey, T. M., Thompson, J. A., McLaren, T. L., De Roach, J. N., Fletcher, S., Wilton, S. D., Chen, F. K., & McLenachan, S. (2021). Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene. Stem Cell Research, 54, [102448]. https://doi.org/10.1016/j.scr.2021.102448

@article{5ac42c8f98c34f93834ace73f28ef63a,

title = "Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene",

abstract = "Stargardt disease (STGD1) is the most common inherited retinal dystrophy and ABCA4 c.546-–10 T>C is the most commonly reported splice mutation. Here, we generated and characterized two induced pluripotent stem cell (iPSC) lines from a STGD1 patient with compound heterozygous mutations in ABCA4 (c.[5461-10 T > C;5603A > T];[4163 T > C;455G > A]). Episomal vectors containing OCT4, SOX2, KLF4, L-MYC, LIN28 and mp53DD were employed to conduct the reprogramming of patient-derived fibroblasts. Both lines had a normal karyotype, displayed iPSC morphology, expressed pluripotency markers and showed trilineage differentiation potential. These lines can provide a powerful platform for further investigating the pathophysiological consequences of mutations in ABCA4.",

author = "Di Huang and Dan Zhang and Chen, {Shang Chih} and Aung-Htut, {May Thandar} and Lamey, {Tina M.} and Thompson, {Jennifer A.} and McLaren, {Terri L.} and {De Roach}, {John N.} and Sue Fletcher and Wilton, {Steve D.} and Chen, {Fred K.} and Samuel McLenachan",

year = "2021",

month = jul,

doi = "10.1016/j.scr.2021.102448",

language = "English",

volume = "54",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Pergamon",

}

Huang, D, Zhang, D, Chen, SC, Aung-Htut, MT, Lamey, TM, Thompson, JA, McLaren, TL, De Roach, JN, Fletcher, S , Wilton, SD , Chen, FK & McLenachan, S 2021, 'Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene', Stem Cell Research, vol. 54, 102448. https://doi.org/10.1016/j.scr.2021.102448

TY - JOUR

T1 - Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene

AU - Huang, Di

AU - Zhang, Dan

AU - Chen, Shang Chih

AU - Aung-Htut, May Thandar

AU - Lamey, Tina M.

AU - Thompson, Jennifer A.

AU - McLaren, Terri L.

AU - De Roach, John N.

AU - Fletcher, Sue

AU - Wilton, Steve D.

AU - Chen, Fred K.

AU - McLenachan, Samuel

PY - 2021/7

Y1 - 2021/7

N2 - Stargardt disease (STGD1) is the most common inherited retinal dystrophy and ABCA4 c.546-–10 T>C is the most commonly reported splice mutation. Here, we generated and characterized two induced pluripotent stem cell (iPSC) lines from a STGD1 patient with compound heterozygous mutations in ABCA4 (c.[5461-10 T > C;5603A > T];[4163 T > C;455G > A]). Episomal vectors containing OCT4, SOX2, KLF4, L-MYC, LIN28 and mp53DD were employed to conduct the reprogramming of patient-derived fibroblasts. Both lines had a normal karyotype, displayed iPSC morphology, expressed pluripotency markers and showed trilineage differentiation potential. These lines can provide a powerful platform for further investigating the pathophysiological consequences of mutations in ABCA4.

AB - Stargardt disease (STGD1) is the most common inherited retinal dystrophy and ABCA4 c.546-–10 T>C is the most commonly reported splice mutation. Here, we generated and characterized two induced pluripotent stem cell (iPSC) lines from a STGD1 patient with compound heterozygous mutations in ABCA4 (c.[5461-10 T > C;5603A > T];[4163 T > C;455G > A]). Episomal vectors containing OCT4, SOX2, KLF4, L-MYC, LIN28 and mp53DD were employed to conduct the reprogramming of patient-derived fibroblasts. Both lines had a normal karyotype, displayed iPSC morphology, expressed pluripotency markers and showed trilineage differentiation potential. These lines can provide a powerful platform for further investigating the pathophysiological consequences of mutations in ABCA4.

UR - http://www.scopus.com/inward/record.url?scp=85108885479&partnerID=8YFLogxK

U2 - 10.1016/j.scr.2021.102448

DO - 10.1016/j.scr.2021.102448

M3 - Article

C2 - 34198153

AN - SCOPUS:85108885479

VL - 54

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

M1 - 102448

ER -

Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene

Abstract

Access to Document

Other files and links

Fingerprint

Accelerating the identification and treatment of splice-altering mutations underlying inherited retinal diseases

MRFF - Developing Personalised Treatment for Retinal Degeneration

From discovery to therapy in genetic eye diseases

Cite this

Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene

Abstract

Access to Document

Other files and links

Fingerprint

Projects

Accelerating the identification and treatment of splice-altering mutations underlying inherited retinal diseases

MRFF - Developing Personalised Treatment for Retinal Degeneration

From discovery to therapy in genetic eye diseases

Cite this