Ontology highlight
ABSTRACT:
SUBMITTER: Teinert J
PROVIDER: S-EPMC7269118 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Teinert Julian J Behne Robert R D'Amore Angelica A Wimmer Miriam M Dwyer Sean S Chen Teresa T Buttermore Elizabeth D ED Chen Ivy Pin-Fang IP Sahin Mustafa M Ebrahimi-Fakhari Darius D
Stem cell research 20190911
Bi-allelic variants in the subunits of the adaptor protein complex 4 lead to childhood-onset, complex hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1), and SPG52 (AP4S1). Here, we describe the generation of induced pluripotent stem cells (iPSCs) from three AP-4-HSP patients with compound-heterozygous, loss-of-function variants in AP4B1 and sex-matched parents. Fibroblasts were reprogrammed using non-integrating Sendai virus. iPSCs were characterized according ...[more]