Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling

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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

Stem Cell Research  ELSEVIER SCIENCE BV

Tipo:
Editorial Material
Páginas:
101455-101455
PubMed:
31082679

Citas Recibidas en Web of Science: 7

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