Reprogramming of Hypophosphatasia patient cells to generate a new human iPSC cell line (UOMi009-A).
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
10 2022
10 2022
Historique:
received:
31
08
2022
revised:
15
09
2022
accepted:
16
09
2022
pubmed:
25
9
2022
medline:
26
10
2022
entrez:
24
9
2022
Statut:
ppublish
Résumé
In this study we report reprogramming and generation of a new human induced pluripotent stem cell line UOMi009_A, which was generated from a 64 year old male patient with childhood onset Hypophosphatasia (HPP). The patient has compound heterozygous mutations in the ALPL gene (c.571G>A (p.Glu191Lys) and c.1001G>A (p.Gly334Asp)) which were confirmed in the UOMi009_A line. This line was well characterized and will help in our future assessment of HPP disease pathophysiology and drug screening.
Identifiants
pubmed: 36152425
pii: S1873-5061(22)00270-7
doi: 10.1016/j.scr.2022.102921
pii:
doi:
Substances chimiques
Alkaline Phosphatase
EC 3.1.3.1
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
102921Subventions
Organisme : CIHR
Pays : Canada
Informations de copyright
Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.