[HTML][HTML] Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis
N Erkilic, C Sanjurjo-Soriano, G Manes, G Dubois… - Stem Cell Research, 2019 - Elsevier
The human induced pluripotent stem cell (iPSC) line, INMi004-A, was generated using
dermal fibroblasts from a 6 year-old patient with autosomal dominant Leber Congenital
Amaurosis (LCA) caused by the point mutation c. 695delC (p. Pro232Argfs* 139) in the CRX
gene. We used non-integrative Sendai virus vectors containing the human OSKM
transcription factor cocktail to reprogram patient fibroblasts. The generated iPSC line
contained the congenital deletion c. 695delC in exon 4 of CRX, had a normal karyotype, and …
dermal fibroblasts from a 6 year-old patient with autosomal dominant Leber Congenital
Amaurosis (LCA) caused by the point mutation c. 695delC (p. Pro232Argfs* 139) in the CRX
gene. We used non-integrative Sendai virus vectors containing the human OSKM
transcription factor cocktail to reprogram patient fibroblasts. The generated iPSC line
contained the congenital deletion c. 695delC in exon 4 of CRX, had a normal karyotype, and …
[HTML][HTML] Generation of a human iPSC line, INMi003-A, with a missense mutation in CRX associated with autosomal dominant cone-rod dystrophy
N Erkilic, C Sanjurjo-Soriano, M Diakatou, G Manes… - Stem Cell Research, 2019 - Elsevier
We generated an induced pluripotent stem cell (iPSC) line using dermal fibroblasts from a
53 year-old patient with autosomal dominant cone-rod dystrophy (CRD) caused by a
missense mutation, c. 121C> T, in the CRX gene. Patient fibroblasts were reprogrammed
using the non-integrative Sendai virus reprogramming system and the human OSKM
transcription factor cocktail. The generated iPSCs contained the congenital mutation in exon
3 of CRX and were pluripotent and genetically stable. This iPSC line will be an important …
53 year-old patient with autosomal dominant cone-rod dystrophy (CRD) caused by a
missense mutation, c. 121C> T, in the CRX gene. Patient fibroblasts were reprogrammed
using the non-integrative Sendai virus reprogramming system and the human OSKM
transcription factor cocktail. The generated iPSCs contained the congenital mutation in exon
3 of CRX and were pluripotent and genetically stable. This iPSC line will be an important …
