Generation and characterization of the human iPSC line IDISi001-A isolated from blood cells of a CADASIL patient carrying a NOTCH3 mutation.
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DOI: 10.1016/j.scr.2018.01.023
Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of hereditary stroke disorder. It is caused by mutations in NOTCH3 that lead to progressive degeneration of the smooth muscle… read more here.
Keywords: patient carrying; carrying notch3; notch3 mutation; blood ... See more keywords
Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation.
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DOI: 10.1016/j.scr.2019.101524
Abstract: SLC26A4 is the second most frequent gene implicated in congenital hearing loss after GJB2 mutations. Here, we report the generation of induced pluripotent stem cells (iPSCs), from a patient who was carrying a homozygous c.919-2A>G… read more here.
Keywords: cell line; human ips; patient carrying; ips cell ... See more keywords
Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying kif1a c.773C>T missense mutation.
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DOI: 10.1016/j.scr.2020.101727
Abstract: KIF1A gene encodes the kinesin 1a protein, an axonal motor protein participating in axonal transport. Variants in KIF1A were identified in different forms of neurodegenerative diseases. Here, we generated induced pluripotent stem cells (iPSCs) from… read more here.
Keywords: hereditary spastic; patient carrying; induced pluripotent; pluripotent stem ... See more keywords
Generation of two hiPSC lines (MHHi016-A, MHHi016-B) from a primary ciliary dyskinesia patient carrying a homozygous 5 bp duplication (c.248_252dup (p.Gly85Cysfs*11)) in exon 1 of the CCNO gene.
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DOI: 10.1016/j.scr.2020.101850
Abstract: Cyclin O (CCNO) is involved in cell cycle regulation and mutations of CCNO are linked to the rare genetic disease primary ciliary dyskinesia (PCD). Mutations in CCNO are associated with reduced cilia number and cilia… read more here.
Keywords: primary ciliary; ciliary dyskinesia; patient carrying; exon ccno ... See more keywords