Generation of an induced pluripotent stem cell line FDHPIi001-C from a female patient with WDR45-related neurodegeneration disease carrying non-canonical splice site c.344+5G>T

Title	Generation of an induced pluripotent stem cell line FDHPIi001-C from a female patient with WDR45-related neurodegeneration disease carrying non-canonical splice site c.344+5G>T
Acronym	FDHPIi001-C
Start date	2021-09-01
End date	2023-12-31
Sponsor	yu an
Institution	Fudan University

Project Description

The WDR45 encodes a beta-propeller scaffold protein which leads to β-propeller protein-associated neurodegeneration (BPAN) with iron accumulation in the brain. Using episomal reprogramming approach, we generated an iPSC line from peripheral blood mononuclear cells （PBMCs）from a 9-year-old girl with a non-canonical splice site c.344+5G>T in the WDR45 gene. The iPSC line had been fully examined about pluripotency marker, karyotype, and three germ layer differentiation.