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Generation and characterization of iPSC lines (UOHi001-A, UOHi002-A) From a patient with SHANK3 mutation and her healthy mother

Ritu Nayak, Idan Rosh, Tatiana Rabinski, Menachem Mendel Percia, View ORCID ProfileShani Stern
doi: https://doi.org/10.1101/2022.04.13.486968
Ritu Nayak
1Sagol Department of Neurobiology, University of Haifa, Haifa 3498838, Israel
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Idan Rosh
1Sagol Department of Neurobiology, University of Haifa, Haifa 3498838, Israel
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Tatiana Rabinski
2The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel
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Menachem Mendel Percia
1Sagol Department of Neurobiology, University of Haifa, Haifa 3498838, Israel
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Shani Stern
1Sagol Department of Neurobiology, University of Haifa, Haifa 3498838, Israel
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  • ORCID record for Shani Stern
  • For correspondence: sstern@univ.haifa.ac.il
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Abstract

Phelan-McDermid syndrome (PMS) is a rare genetic condition that causes global developmental disability, delayed or absent speech, and autism spectrum disorder. The loss of function of one copy of SHANK3, which codes for a scaffolding protein found in the postsynaptic density of synapses, has been identified as the main cause of PMS. We report the generation and characterization of two induced pluripotent stem cell (iPSC) lines derived from one patient with a SHANK3 mutation and the patient’s mother as a control. Both lines expressed pluripotency markers, differentiated into the three germ layers, retained the disease-causing mutation, and displayed normal karyotypes.

Competing Interest Statement

The authors have declared no competing interest.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted April 13, 2022.
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Generation and characterization of iPSC lines (UOHi001-A, UOHi002-A) From a patient with SHANK3 mutation and her healthy mother
Ritu Nayak, Idan Rosh, Tatiana Rabinski, Menachem Mendel Percia, Shani Stern
bioRxiv 2022.04.13.486968; doi: https://doi.org/10.1101/2022.04.13.486968
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Generation and characterization of iPSC lines (UOHi001-A, UOHi002-A) From a patient with SHANK3 mutation and her healthy mother
Ritu Nayak, Idan Rosh, Tatiana Rabinski, Menachem Mendel Percia, Shani Stern
bioRxiv 2022.04.13.486968; doi: https://doi.org/10.1101/2022.04.13.486968

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