Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10
Sign Up to like & getrecommendations! Published in 2019 at "Brain and Development"
DOI: 10.1016/j.braindev.2019.03.009
Abstract: OBJECTIVE EAST syndrome comprises of epilepsy, ataxia, sensorineural deafness, and tubulopathy. It is caused by a mutation in KCNJ10 gene. Less than thirty cases have been reported in the literature with emphasis on genetic mutation… read more here.
Keywords: epilepsy; caused mutation; mutation kcnj10; east syndrome ... See more keywords
Generation of a human iPSC line from a patient with retinitis pigmentosa caused by mutation in PRPF8 gene.
Sign Up to like & getrecommendations! Published in 2017 at "Stem cell research"
DOI: 10.1016/j.scr.2017.03.007
Abstract: The human iPSC cell line, RP2-FiPS4F1 (RCPFi001-A), derived from dermal fibroblasts from the patient with retinitis pigmentosa caused by the mutation of the gene PRPF8, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC… read more here.
Keywords: caused mutation; line; patient retinitis; retinitis pigmentosa ... See more keywords
Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene.
Sign Up to like & getrecommendations! Published in 2018 at "Stem cell research"
DOI: 10.1016/j.scr.2018.01.004
Abstract: The human iPSC cell line, GLC-FiPS4F1 (ESi047-A), derived from dermal fibroblast from the patient with congenital glaucoma caused by the mutation of the gene CYP1B1, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC… read more here.
Keywords: caused mutation; line; congenital glaucoma; patient congenital ... See more keywords