Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling
Autores de CIPF
Participantes ajenos a CIPF
- Bolinches-Amorós A
- Marfany G
- Gonzàlez-Duarte R
Grupos de Investigación
Abstract
Dermal fibroblasts from an autosomal recessive retinitis pigmentosa (RP) patient, homozygous for the mutation c.769 C > T, p.Arg257Ter, in CERKL (Ceramide Kinase-Like) gene, and a healthy sibling were derived and reprogrammed by Sendai virus. The generated human induced pluripotent stem cell (hiPSC) lines RP3-FiPS4F1 and Ctrl3-FiPS4F1, were free of genomically integrated reprogramming genes, showed stable karyotypes, expressed pluripotency markers and could be differentiated towards the three germ layers in vitro. These hiPSC lines offer a useful resource to study RP pathomechanisms, drug testing and therapeutic opportunities.
Datos de la publicación
- ISSN/ISSNe:
- 1873-5061, 1876-7753
- Tipo:
- Editorial Material
- Páginas:
- 101455-101455
- PubMed:
- 31082679
Stem Cell Research ELSEVIER SCIENCE BV
Citas Recibidas en Web of Science: 7
Documentos
- No hay documentos
Filiaciones
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