Academic Journal
Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations
| العنوان: | Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations |
|---|---|
| المؤلفون: | Ofrim, Marisa, Little, Daniel, Nazari, Mina, Minnis, Christopher J, Devine, Michael J, Mole, Sara E, Gissen, Paul, Lorvellec, Maëlle |
| المصدر: | Stem Cell Research , 74 , Article 103291. (2023) |
| بيانات النشر: | Elsevier BV |
| سنة النشر: | 2023 |
| المجموعة: | University College London: UCL Discovery |
| الوصف: | The neuronal ceroid lipofuscinoses (NCLs) are a group of common inherited neurodegenerative disorders of childhood. All forms of NCLs are life-limiting with no curative treatments. Most of the 13 NCL genes encode proteins residing in endolysosomal pathways, such as CLN5, a potential lysosomal enzyme. Two induced pluripotent stem cell lines (hiPSCs) were generated from skin fibroblasts of CLN5 disease patients via non-integrating Sendai virus reprogramming. They demonstrate typical stem cell morphology, express pluripotency markers, exhibit trilineage differentiation potential and also successfully differentiate into neurons. These hiPSCs represent a potential resource to model CLN5 disease in a human context and investigate potential therapies. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| Relation: | https://discovery.ucl.ac.uk/id/eprint/10184840/1/1-s2.0-S1873506123002775-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10184840/ |
| الاتاحة: | https://discovery.ucl.ac.uk/id/eprint/10184840/1/1-s2.0-S1873506123002775-main.pdf https://discovery.ucl.ac.uk/id/eprint/10184840/ |
| Rights: | open |
| رقم الانضمام: | edsbas.40EC2C24 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |