Generation of an induced pluripotent stem cell line HPCASRi002-A from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the CASR gene
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 derm...
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doaj-e4dbea79dd664cc885b6ccf86443941f2021-07-09T04:42:38ZengElsevierStem Cell Research1873-50612021-07-0154102414Generation of an induced pluripotent stem cell line HPCASRi002-A from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the CASR geneAlexandra V. Panova0Kristina S. Kulikova1Natalia V. Klementieva2Ivan D. Krylov3Irina O. Snezhko4Anatoly N. Tiulpakov5Sergey L. Kiselev6Endocrinology Research Centre, Moscow, Russia; Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia; Corresponding author.Endocrinology Research Centre, Moscow, RussiaEndocrinology Research Centre, Moscow, RussiaEndocrinology Research Centre, Moscow, RussiaEndocrinology Research Centre, Moscow, RussiaEndocrinology Research Centre, Moscow, Russia; Research Centre for Medical Genetics, Moscow, RussiaVavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, RussiaNeonatal 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.http://www.sciencedirect.com/science/article/pii/S1873506121002609 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Alexandra V. Panova Kristina S. Kulikova Natalia V. Klementieva Ivan D. Krylov Irina O. Snezhko Anatoly N. Tiulpakov Sergey L. Kiselev |
spellingShingle |
Alexandra V. Panova Kristina S. Kulikova Natalia V. Klementieva Ivan D. Krylov Irina O. Snezhko Anatoly N. Tiulpakov Sergey L. Kiselev Generation of an induced pluripotent stem cell line HPCASRi002-A from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the CASR gene Stem Cell Research |
author_facet |
Alexandra V. Panova Kristina S. Kulikova Natalia V. Klementieva Ivan D. Krylov Irina O. Snezhko Anatoly N. Tiulpakov Sergey L. Kiselev |
author_sort |
Alexandra V. Panova |
title |
Generation of an induced pluripotent stem cell line HPCASRi002-A from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the CASR gene |
title_short |
Generation of an induced pluripotent stem cell line HPCASRi002-A from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the CASR gene |
title_full |
Generation of an induced pluripotent stem cell line HPCASRi002-A from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the CASR gene |
title_fullStr |
Generation of an induced pluripotent stem cell line HPCASRi002-A from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the CASR gene |
title_full_unstemmed |
Generation of an induced pluripotent stem cell line HPCASRi002-A from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the CASR gene |
title_sort |
generation of an induced pluripotent stem cell line hpcasri002-a from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the casr gene |
publisher |
Elsevier |
series |
Stem Cell Research |
issn |
1873-5061 |
publishDate |
2021-07-01 |
description |
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. |
url |
http://www.sciencedirect.com/science/article/pii/S1873506121002609 |
work_keys_str_mv |
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