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Stem Cell Res ; 54: 102414, 2021 07.
Article in English | MEDLINE | ID: mdl-34111698

ABSTRACT

Neonatal severe primary hyperparathyroidism (NSHPT) is a rare autosomal recessive disorder of calcium homeostasis that manifests shortly after birth with hypercalcemia and bone disease. NSHPT, in most cases, is attributed to mutations in the calcium-sensing receptor (CASR) gene. We reprogrammed dermal fibroblasts derived from a patient with NSHPT carrying a compound heterozygous mutation in the CASR gene into induced pluripotent stem cells (iPSCs). The established iPSCs expressed pluripotency markers, maintained normal karyotype and differentiated into all three germ layers. This line is a valuable resource for modeling of hyperparathyroidism related to CASR mutations.


Subject(s)
Hypercalcemia , Hyperparathyroidism, Primary , Induced Pluripotent Stem Cells , Humans , Hyperparathyroidism, Primary/genetics , Infant, Newborn , Mutation , Receptors, Calcium-Sensing/genetics
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