التفاصيل البيبلوغرافية
| العنوان: |
Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual |
| المؤلفون: |
Lara Schöning, Niki Tomas Loges, Yvonne Nitschke, Inga Marlena Höben, Albrecht Röpke, Laura Crisponi, Heymut Omran, Frank Rutsch, Insa Buers |
| المصدر: |
Stem Cell Research, Vol 46, Iss , Pp 101820- (2020) |
| بيانات النشر: |
Elsevier, 2020. |
| سنة النشر: |
2020 |
| المجموعة: |
LCC:Biology (General) |
| مصطلحات موضوعية: |
Biology (General), QH301-705.5 |
| الوصف: |
Cytokine receptor like factor 1 (CRLF1) is the gene implicated, when mutated, in Crisponi syndrome/cold-induced sweating syndrome type 1 (CS/CISS1). Here, we report the establishment of induced pluripotent stem cell lines (iPSCs) from fibroblasts of a Turkish CS/CISS1 individual with a homozygous variant in CRLF1 (c.708_709delinsT; p.[Pro238Argfs*6]). This variant is the most frequent variant associated to CS/CISS1 in the Turkish population. These patient derived iPSC lines show all pluripotency markers, a normal karyotype and the ability to differentiate into the three germ layers. |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
1873-5061 |
| Relation: |
http://www.sciencedirect.com/science/article/pii/S1873506120301227; https://doaj.org/toc/1873-5061 |
| DOI: |
10.1016/j.scr.2020.101820 |
| URL الوصول: |
https://doaj.org/article/f106bf553f9549a3b4806dbee37c0634 |
| رقم الانضمام: |
edsdoj.f106bf553f9549a3b4806dbee37c0634 |
| قاعدة البيانات: |
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