Generation of heterozygous and homozygous hESC H9 sublines carrying inactivating mutations in RB1


Inactivation of the tumor suppressor gene RB1 is causal for development of retinoblastoma, a tumor of the neural retina arising in children under the age of five. In addition, secondary RB1 mutations are found in many other tumor types. To investigate retinoblastoma formation in vitro, stem cells with inactivated RB1 can be differentiated into neural retina. To enable such studies, two sublines of hESC line H9 carrying mutations in RB1 exon 3 in heterozygous or homozygous state were generated and characterized. Homozygous mutation led to loss of RB1 protein expression. Resource table. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Schipper L, Kanber D, Steenpass L
Journal Stem cell research
Publication Date 2018 Dec;33:41-45
PubMed 30312872
DOI 10.1016/j.scr.2018.09.016

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