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
Summary
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. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Rotundo G, Turco EM, Ruotolo G, Torrente I, Candido O, Lopez G, Ferrari D, Caputi C, Mastrangelo M, Pisani F, Gelati M, Guarnieri V, Vescovi AL, Rosati J |
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| Journal | Stem cell research |
| Publication Date | 2023 Mar;67:103023 |
| PubMed | 36638628 |
| DOI | 10.1016/j.scr.2023.103023 |