Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
03 2023
03 2023
Historique:
received:
08
10
2022
revised:
12
12
2022
accepted:
05
01
2023
pubmed:
14
1
2023
medline:
3
3
2023
entrez:
13
1
2023
Statut:
ppublish
Résumé
Familial Hypocalciuric Hypercalcemia (FHH1) is a rare autosomal dominant disease with low penetrance, caused by inactivating mutations of the calcium-sensing receptor (CaSR) gene, characterized by significant hypercalcemia, inappropriately normal serum PTH levels and a low urinary calcium level. Human induced pluripotent stem cells (hiPSCs) from a patient carrying a previously identified heterozygous mutation, a p.T972M amino acid substitution in cytoplasmic tail of CasR, were produced using a virus, xeno-free and non-integrative protocol.
Identifiants
pubmed: 36638628
pii: S1873-5061(23)00009-0
doi: 10.1016/j.scr.2023.103023
pii:
doi:
Substances chimiques
Receptors, Calcium-Sensing
0
Calcium
SY7Q814VUP
CASR protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
103023Informations de copyright
Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Jessica Rosati reports financial support was provided by Ministry of Health.