Generation of a human induced pluripotent stem cell line (VRFi001-A) from orbital adipose tissue of a bilateral retinoblastoma patient with heterozygous RB1 gene deletion

Ambily Vincent; Vikas Khetan; Pukhraj Rishi; Ganesan Suganeswari; Subramanian Krishnakumar; Uma Maheswari Krishnan; Sowmya Parameswaran

doi:10.1016/j.scr.2018.03.012

Generation of a human induced pluripotent stem cell line (VRFi001-A) from orbital adipose tissue of a bilateral retinoblastoma patient with heterozygous RB1 gene deletion

Stem Cell Res. 2018 May:29:42-45. doi: 10.1016/j.scr.2018.03.012. Epub 2018 Mar 19.

Authors

Ambily Vincent¹, Vikas Khetan², Pukhraj Rishi², Ganesan Suganeswari², Subramanian Krishnakumar³, Uma Maheswari Krishnan⁴, Sowmya Parameswaran⁵

Affiliations

¹ Radheshyam Kanoi Stem Cell Laboratory, Kamalnayan Bajaj Institute for Research in Vision and Ophthalmology, Vision Research Foundation, Chennai, India; School of Chemical and Biotechnology, SASTRA Deemed-to-be University, Thanjavur, India.
² Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Medical Research Foundation, Chennai, India.
³ Radheshyam Kanoi Stem Cell Laboratory, Kamalnayan Bajaj Institute for Research in Vision and Ophthalmology, Vision Research Foundation, Chennai, India.
⁴ School of Chemical and Biotechnology, SASTRA Deemed-to-be University, Thanjavur, India.
⁵ Radheshyam Kanoi Stem Cell Laboratory, Kamalnayan Bajaj Institute for Research in Vision and Ophthalmology, Vision Research Foundation, Chennai, India. Electronic address: drpsowmya@snmail.org.

PMID: 29579639
DOI: 10.1016/j.scr.2018.03.012

Abstract

Retinoblastoma (RB) is a pediatric intraocular tumor caused by mutations in retinoblastoma (RB1) gene. We have generated induced pluripotent stem cell line VRFi001-A from a bilateral retinoblastoma patient with heterozygous RB1 gene deletion. The iPSC line VRFi001-A retained the mutation and expressed pluripotency markers, had a normal karyotype and was capable of trilineage differentiation.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adipose Tissue / metabolism*
Cell Line
Child
Gene Deletion
Humans
Induced Pluripotent Stem Cells / metabolism*
Orbit / metabolism*
Orbit / pathology
Retinoblastoma / genetics*
Retinoblastoma Protein / genetics*

Substances

Retinoblastoma Protein