Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome

Stem Cell Res. 2019 Dec:41:101616. doi: 10.1016/j.scr.2019.101616. Epub 2019 Oct 24.

Authors

Noelia Benetó¹, Monica Cozar¹, María García-Morant¹, Edgar Creus-Bachiller¹, Lluïsa Vilageliu¹, Daniel Grinberg¹, Isaac Canals²

Affiliations

¹ Department Genetics, Microbiology and Statistics, Fac. Biology, University of Barcelona, CIBERER, IBUB, IRSJD, Spain.
² Stem Cells, Aging and Neurodegeneration Group, Lund Stem Cell Center, University Hospital, Lund, Sweden. Electronic address: isaac.canals@med.lu.se.

PMID: 31731183
DOI: 10.1016/j.scr.2019.101616

No abstract available

MeSH terms

Acetyltransferases / genetics*
Base Sequence
CRISPR-Cas Systems / genetics*
Cell Culture Techniques / methods*
Heterozygote
Humans
Induced Pluripotent Stem Cells / cytology*
Male
Models, Biological*
Mucopolysaccharidosis III / pathology*
Mutation / genetics*
Reproducibility of Results

Substances

Acetyltransferases
HGSNAT protein, human