Generation of induced pluripotent stem cell line (UCSFi001-A-77) carrying a biallelic frameshift variant in exon 4 of SGIP1 through CRISPR/Cas9
Fatima, Neelam, Dillen, Lieke, Hommersom, Marina P., Çepni, Ece, Fatima, Fareeha, van Beusekom, Ellen, Albert, Silvia, Ali Khan, Asma, de Brouwer, Arjan P.M., van Bokhoven, Hans
Published in Stem cell research (01.10.2024)
Published in Stem cell research (01.10.2024)
Get full text
Journal Article
Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1
Dillen, Lieke, Fatima, Neelam, Hommersom, Marina P., Çepni, Ece, Fatima, Fareeha, van Beusekom, Ellen, Albert, Silvia, van Hagen, Johanna M., de Vries, Bert B.A., Khan, Asma Ali, de Brouwer, Arjan P.M., van Bokhoven, Hans
Published in Stem cell research (01.06.2024)
Published in Stem cell research (01.06.2024)
Get full text
Journal Article
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
Hommersom, Marina P., Bijnagte-Schoenmaker, Chantal, Albert, Silvia, van de Warrenburg, Bart P.C., Nadif Kasri, Nael, van Bokhoven, Hans
Published in Stem cell research (01.05.2022)
Published in Stem cell research (01.05.2022)
Get full text
Journal Article
CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability
Hommersom, Marina P, Doorn, Nina, Puvogel, Sofía, Lewerissa, Elly I, Mordelt, Annika, Ciptasari, Ummi, Kampshoff, Franziska, Dillen, Lieke, van Beusekom, Ellen, Oudakker, Astrid, Kogo, Naoki, Dolga, Amalia M, Frega, Monica, Schubert, Dirk, van de Warrenburg, Bart P C, Nadif Kasri, Nael, van Bokhoven, Hans
Published in Brain (London, England : 1878) (26.10.2024)
Published in Brain (London, England : 1878) (26.10.2024)
Get full text
Journal Article