دورية أكاديمية
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.
| العنوان: | 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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| المؤلفون: | Panova AV; Endocrinology Research Centre, Moscow, Russia; Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia. Electronic address: a.v.panova@mail.ru., Kulikova KS; Endocrinology Research Centre, Moscow, Russia., Klementieva NV; Endocrinology Research Centre, Moscow, Russia., Krylov ID; Endocrinology Research Centre, Moscow, Russia., Snezhko IO; Endocrinology Research Centre, Moscow, Russia., Tiulpakov AN; Endocrinology Research Centre, Moscow, Russia; Research Centre for Medical Genetics, Moscow, Russia., Kiselev SL; Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia. |
| المصدر: | Stem cell research [Stem Cell Res] 2021 Jul; Vol. 54, pp. 102414. Date of Electronic Publication: 2021 Jun 04. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Kidlington, Oxford : Elsevier |
| مواضيع طبية MeSH: | Hypercalcemia* , Hyperparathyroidism, Primary*/genetics , Induced Pluripotent Stem Cells*, Humans ; Infant, Newborn ; Mutation ; Receptors, Calcium-Sensing/genetics |
| مستخلص: | 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. (Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.) |
| المشرفين على المادة: | 0 (CASR protein, human) 0 (Receptors, Calcium-Sensing) |
| تواريخ الأحداث: | Date Created: 20210610 Date Completed: 20210805 Latest Revision: 20210805 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1016/j.scr.2021.102414 |
| PMID: | 34111698 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1876-7753 |
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| DOI: | 10.1016/j.scr.2021.102414 |