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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Main Authors:	Alexandra V. Panova, Kristina S. Kulikova, Natalia V. Klementieva, Ivan D. Krylov, Irina O. Snezhko, Anatoly N. Tiulpakov, Sergey L. Kiselev
Format:	Article
Language:	English
Published:	Elsevier 2021-07-01
Series:	Stem Cell Research
Online Access:	http://www.sciencedirect.com/science/article/pii/S1873506121002609

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spelling	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
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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

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