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
oleh: 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
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2023-03-01 |
Deskripsi
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.