UKWNLi001-A

Registration Summary:

A P E C

FD-W236C-iPSC

The cell line is not submitted yet.

(only basic data is shown)

General

Cell Line
hPSCreg name	UKWNLi001-A
Cite as:	UKWNLi001-A (RRID:CVCL_VN62)
Alternative name(s)	FD-W236C-iPSC
Cell line type	Human induced pluripotent stem cell (hiPSC)
Similar lines	No similar lines found.
Last update	1st April 2018
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Provider
Generator	Neurologische Klinik (UKWNL)
External Databases
Cellosaurus	CVCL_VN62
Wikidata	Q98134000
General Information
Publications	Klein T et al. Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene. Stem cell research. 2018 Aug;31:222-226. Üçeyler N et al. Tumor necrosis factor-α links heat and inflammation with Fabry pain. Molecular genetics and metabolism. 2019 Jul;127(3):200-206. Chulpanova Daria S. et al. iPSCs for modeling lysosomal storage diseases. Recent Advances in iPSC Disease Modeling, Volume 1. 2020-00-00. Mohammadi Nazanin A. et al. Human induced pluripotent cells in personalized treatment of monogenic epilepsies. Journal of Translational Genetics and Genomics. 2020-00-00. Ghori FF et al. Induced pluripotent stem cells from urine of Duchenne muscular dystrophy patients. Pediatrics international : official journal of the Japan Pediatric Society. 2021 Sep;63(9):1038-1047. Cakmak Cagla et al. A perspective on human cell models for POLG-spectrum disorders: advantages and disadvantages of CRISPR-Cas-based vs. patient-derived iPSC models. Medizinische Genetik. 2021-12-31. Kaneski CR et al. Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease. Molecular genetics and metabolism reports. 2022 Dec;33:100914. Hofmann Lukas et al. Elevated interleukin-8 expression by skin fibroblasts as a potential contributor to pain in women with Fabry disease. PLOS ONE. 2024-04-09.

hIPSC Derivation

General