| Autor: |
Divya Pidishetty, Savitri Maddileti, Sudipta Mahato, Trupti Agrawal, Milind Naik, Chitra Kannabiran, Subhadra Jalali, Indumathi Mariappan |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 78, Iss , Pp 103458- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2024.103458 |
| Popis: |
The Stargardt’s Disease, Type 1 (STGD1) is associated with the loss of function mutations in ABCA4. This gene codes for a retina-specific, ATP-binding cassette (ABC) family transporter, involved in the transport of the key visual cycle intermediate, all-trans-retinaldehyde (atRAL), across the photoreceptor cell membranes. Here, we report the establishment of a patient-specific, iPSC line (LVPEIi008-A), that carries a homozygous nonsense mutation at (c.6088C > T) position, within exon 44 of ABCA4. The patient-specific skin fibroblasts were reprogrammed using episomal plasmids and the stably expanding iPSC line expressed the key stemness and pluripotency markers, maintained its chromosomal integrity and tested negative for mycoplasma. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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