Autor: |
Marina P. Hommersom, Chantal Bijnagte-Schoenmaker, Silvia Albert, Bart P.C. van de Warrenburg, Nael Nadif Kasri, Hans van Bokhoven |
Jazyk: |
angličtina |
Rok vydání: |
2022 |
Předmět: |
|
Zdroj: |
Stem Cell Research, Vol 61, Iss , Pp 102730- (2022) |
Druh dokumentu: |
article |
ISSN: |
1873-5061 |
DOI: |
10.1016/j.scr.2022.102730 |
Popis: |
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. |
Databáze: |
Directory of Open Access Journals |
Externí odkaz: |
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