BIOMAT Database Logo BIOMAT Database Logo

Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3. 2024

Sudipta Mahato, and Savitri Maddileti, and Milind Naik, and Chitra Kannabiran, and Subhadra Jalali, and Indumathi Mariappan
Centre for Ocular Regeneration, Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, L.V. Prasad Eye Institute, Hyderabad, Telangana, India; Manipal Academy of Higher Education, Manipal, Karnataka, India.

Leber congenital amaurosis (LCA) is a congenital, early onset, autosomal recessive inherited retinal disease (IRD). This report describes an LCA12 patient-specific iPSC line (LVPEIi006-A), generated by the reprogramming of dermal fibroblasts using integration-free episomal plasmids.This disease-specific iPSC model carries a homozygous point mutation in RD3, within the donor splice site at the end of exon 2 (c.296 + 1G > A). The stable line at passage 15 has displayed a normal colony morphology, expressed multiple stemness and pluripotency markers, lost all transgenes, differentiated into cell types of all three germ layers, and maintained a normal karyotype.

UI MeSH Term Description Entries

Related Publications

Sudipta Mahato, and Savitri Maddileti, and Milind Naik, and Chitra Kannabiran, and Subhadra Jalali, and Indumathi Mariappan
Generation of a human induced pluripotent stem cell line from a patient with Leber congenital amaurosis.
March 2020, Stem cell research,
Sudipta Mahato, and Savitri Maddileti, and Milind Naik, and Chitra Kannabiran, and Subhadra Jalali, and Indumathi Mariappan
Generation of an induced pluripotent stem cell (iPSC) line (THSJTUi001-A) from a Wilson's disease patient harboring a homozygous Arg778Leu mutation in ATP7B gene.
December 2020, Stem cell research,
Sudipta Mahato, and Savitri Maddileti, and Milind Naik, and Chitra Kannabiran, and Subhadra Jalali, and Indumathi Mariappan
Generation of a human induced pluripotent stem cell line JHUi003-A with homozygous mutation for spinocerebellar ataxia type 12 using genome editing.
May 2021, Stem cell research,
Sudipta Mahato, and Savitri Maddileti, and Milind Naik, and Chitra Kannabiran, and Subhadra Jalali, and Indumathi Mariappan
Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi004-A) from a Wilson's disease patient harboring a homozygous Pro992Leu mutation in ATP7B gene.
April 2020, Stem cell research,
Sudipta Mahato, and Savitri Maddileti, and Milind Naik, and Chitra Kannabiran, and Subhadra Jalali, and Indumathi Mariappan
Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi003-A) from a Wilson's disease patient harboring a homozygous R778L mutation in ATP7B gene.
December 2019, Stem cell research,
Sudipta Mahato, and Savitri Maddileti, and Milind Naik, and Chitra Kannabiran, and Subhadra Jalali, and Indumathi Mariappan
Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi005-A) from a Wilson's disease patient harboring a homozygous Pro992Leu mutation in ATP7B gene.
July 2020, Stem cell research,
Sudipta Mahato, and Savitri Maddileti, and Milind Naik, and Chitra Kannabiran, and Subhadra Jalali, and Indumathi Mariappan
Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1.
December 2018, Stem cell research,
Sudipta Mahato, and Savitri Maddileti, and Milind Naik, and Chitra Kannabiran, and Subhadra Jalali, and Indumathi Mariappan
RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12.
October 2013, Human molecular genetics,
Sudipta Mahato, and Savitri Maddileti, and Milind Naik, and Chitra Kannabiran, and Subhadra Jalali, and Indumathi Mariappan
RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells.
December 2010, Proceedings of the National Academy of Sciences of the United States of America,
Sudipta Mahato, and Savitri Maddileti, and Milind Naik, and Chitra Kannabiran, and Subhadra Jalali, and Indumathi Mariappan
Generation of a human induced pluripotent stem cell line NTUHi002-A from a patient with aceruloplasminemia harboring a homozygous splicing mutation c.607+1 delG in CP gene.
August 2022, Stem cell research,
Copied contents to your clipboard!