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

Giovannina Rotundo; Elisa Maria Turco; Giorgia Ruotolo; Isabella Torrente; Ornella Candido; Gianluca Lopez; Daniela Ferrari; Caterina Caputi; Mario Mastrangelo; Francesco Pisani; Maurizio Gelati; Vito Guarnieri; Angelo Luigi Vescovi; Jessica Rosati

doi:10.1016/j.scr.2023.103023

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

Stem Cell Res. 2023 Mar:67:103023. doi: 10.1016/j.scr.2023.103023. Epub 2023 Jan 7.

Affiliations

¹ Cellular Reprogramming Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy.
² Cellular Reprogramming Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy; Biotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, Milan 20126, Italy.
³ Medical Genetics Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy.
⁴ Department of Clinical and Molecular Medicine, Sapienza University and Sant'Andrea Hospital, Rome, Italy.
⁵ Biotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, Milan 20126, Italy.
⁶ Child Neurology and Psychiatry Unit Department of Human Neuroscience, Sapienza-University of Rome Via dei Sabelli, 00185, Italy.
⁷ UPTA Unit Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy.
⁸ Cellular Reprogramming Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy. Electronic address: j.rosati@css-mendel.it.

PMID: 36638628
DOI: 10.1016/j.scr.2023.103023

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Calcium
Humans
Hypercalcemia* / genetics
Induced Pluripotent Stem Cells* / metabolism
Mutation
Point Mutation
Receptors, Calcium-Sensing / genetics
Receptors, Calcium-Sensing / metabolism

Substances

Receptors, Calcium-Sensing
Calcium
CASR protein, human