Generation of induced pluripotent stem cell lines carrying monoallelic (UCSFi001-A-60) or biallelic (UCSFi001-A-61; UCSFi001-A-62) frameshift variants in CACNA1A using CRISPR/Cas9

CACNA1A encodes a P/Q-type voltage-gated calcium channel. Heterozygous loss-of-function variants in this gene have been associated with episodic ataxia type 2. In this study, we used CRISPR/Cas9 to generate isogenic human induced pluripotent stem cell lines with a gene-dosage dependent deficiency of...

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Published inStem cell research Vol. 61; p. 102730
Main Authors Hommersom, Marina P., Bijnagte-Schoenmaker, Chantal, Albert, Silvia, van de Warrenburg, Bart P.C., Nadif Kasri, Nael, van Bokhoven, Hans
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.05.2022
Elsevier
Subjects
ataxia
CACNA1A
Calcium Channels - metabolism
Cells, Cultured
CRISPR-Cas Systems - genetics
Frameshift Mutation
Humans
Induced Pluripotent Stem Cells - metabolism
neuron
ataxia
neuron
CACNA1A
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Summary:CACNA1A encodes a P/Q-type voltage-gated calcium channel. Heterozygous loss-of-function variants in this gene have been associated with episodic ataxia type 2. In this study, we used CRISPR/Cas9 to generate isogenic human induced pluripotent stem cell lines with a gene-dosage dependent deficiency of CACNA1A. We obtained one clone with monoallelic (UCSFi001-A-60) and two clones with biallelic (UCSFi001-A-61; UCSFi001-A-62) frameshift variants in CACNA1A. All three lines showed expression of pluripotency markers and a normal karyotype.
Bibliography:ObjectType-Article-1
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ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2022.102730