Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy
We report the generation of the human iPSC line LEIi007-A from a patient with autosomal recessive Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene (c.[5461-10 T > C];[4139C > T]). Reprogramming of patient dermal fibroblasts was performed using episomal plasmids con...
Main Authors: | Johann N. Claassen, Dan Zhang, Shang-Chih Chen, Sang Yoon Moon, Tina Lamey, Jennifer A. Thompson, Terri McLaren, John N. De Roach, Samuel McLenachan, Fred K. Chen |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2019-01-01
|
Series: | Stem Cell Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506118302824 |
Similar Items
-
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
by: Luke Jennings, et al.
Published: (2020-10-01) -
Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene
by: Di Huang, et al.
Published: (2021-07-01) -
Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461–10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene
by: Di Huang, et al.
Published: (2021-07-01) -
Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations
by: Zhiqin Huang, et al.
Published: (2019-10-01) -
Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect
by: Di Huang, et al.
Published: (2020-07-01)