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 journalArticlepeer-review

1 Citation (Scopus)

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 languageEnglish
Article number102448
JournalStem Cell Research
Volume54
DOIs
Publication statusPublished - Jul 2021

Fingerprint

Dive into the research topics of 'Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene'. Together they form a unique fingerprint.

Cite this