Human induced pluripotent stem cell line (SDQLCHi064-A) derived from a patient with Canavan disease carrying c.556_559dup GTTC and c.919delA mutations in the ASPA gene
Summary
Canavan disease (CD, OMIM# 271900) is an autosomal recessive neurodegenerative disorder caused by homozygous or compound heterozygous mutations in ASPA gene, which result in catalytic deficiency of the aspartoacylase enzyme and the accumulation of N-acetylaspartic acid (NAA). Clinical presentation varies according to the age of disease onset. Here, we generated a human induced pluripotent stem cell line (hiPSCs) SDQLCHi064-A from a 5-month old boy with CD carrying two novel frame shift mutations c.556_559dupGTTC (p.L187Rfs*5) and c.919delA (p.S307Vfs*24) of the ASPA gene, in order for us to better understanding the disease. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Liu N, Ge Y, Yang Y, Zhao F, Lv Y, Li Z, Dong R, Liu Y, Gai Z |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Apr;76:103325 |
| PubMed | 38309148 |
| DOI | 10.1016/j.scr.2024.103325 |