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A reference human induced pluripotent stem cell line for large-scale collaborative studies.
Pantazis CB, Yang A, Lara E, McDonough JA, Blauwendraat C, Peng L, Oguro H, Kanaujiya J, Zou J, Sebesta D, Pratt G, Cross E, Blockwick J, Buxton P, Kinner-Bibeau L, Medura C, Tompkins C, Hughes S, Santiana M, Faghri F, Nalls MA, Vitale D, Ballard S, Qi YA, Ramos DM, Anderson KM, Stadler J, Narayan P, Papademetriou J, Reilly L, Nelson MP, Aggarwal S, Rosen LU, Kirwan P, Pisupati V, Coon SL, Scholz SW, Priebe T, Öttl M, Dong J, Meijer M, Janssen LJM, Lourenco VS, van der Kant R, Crusius D, Paquet D, Raulin AC, Bu G, Held A, Wainger BJ, Gabriele RMC, Casey JM, Wray S, Abu-Bonsrah D, Parish CL, Beccari MS, Cleveland DW, Li E, Rose IVL, Kampmann M, Calatayud Aristoy C, Verstreken P, Heinrich L, Chen MY, Schüle B, Dou D, Holzbaur ELF, Zanellati MC, Basundra R, Deshmukh M, Cohen S, Khanna R, Raman M, Nevin ZS, Matia M, Van Lent J, Timmerman V, Conklin BR, Johnson Chase K, Zhang K, Funes S, Bosco DA, Erlebach L, Welzer M, Kronenberg-Versteeg D, Lyu G, Arenas E, Coccia E, Sarrafha L, Ahfeldt T, Marioni JC, Skarnes WC, Cookson MR, Ward ME, Merkle FT. Pantazis CB, et al. Cell Stem Cell. 2022 Dec 1;29(12):1685-1702.e22. doi: 10.1016/j.stem.2022.11.004. Cell Stem Cell. 2022. PMID: 36459969 Free PMC article.
Neuronal DNA repair reveals strategies to influence CRISPR editing outcomes.
Ramadoss GN, Namaganda SJ, Hamilton JR, Sharma R, Chow KG, Macklin BL, Sun M, Liu JC, Fellmann C, Watry HL, Jin J, Perez BS, Sandoval Espinoza CR, Matia MP, Lu SH, Judge LM, Nussenzweig A, Adamson B, Murthy N, Doudna JA, Kampmann M, Conklin BR. Ramadoss GN, et al. bioRxiv [Preprint]. 2024 Jun 26:2024.06.25.600517. doi: 10.1101/2024.06.25.600517. bioRxiv. 2024. PMID: 38979269 Free PMC article. Preprint.
Advances and challenges in modeling inherited peripheral neuropathies using iPSCs.
Van Lent J, Prior R, Pérez Siles G, Cutrupi AN, Kennerson ML, Vangansewinkel T, Wolfs E, Mukherjee-Clavin B, Nevin Z, Judge L, Conklin B, Tyynismaa H, Clark AJ, Bennett DL, Van Den Bosch L, Saporta M, Timmerman V. Van Lent J, et al. Exp Mol Med. 2024 Jun;56(6):1348-1364. doi: 10.1038/s12276-024-01250-x. Epub 2024 Jun 3. Exp Mol Med. 2024. PMID: 38825644 Free PMC article. Review.
Validated assays for the quantification of C9orf72 human pathology.
Salomonsson SE, Maltos AM, Gill K, Aladesuyi Arogundade O, Brown KA, Sachdev A, Sckaff M, Lam KJK, Fisher IJ, Chouhan RS, Van Laar VS, Marley CB, McLaughlin I, Bankiewicz KS, Tsai YC, Conklin BR, Clelland CD. Salomonsson SE, et al. Sci Rep. 2024 Jan 8;14(1):828. doi: 10.1038/s41598-023-50667-3. Sci Rep. 2024. PMID: 38191789 Free PMC article.
Reversal of C9orf72 mutation-induced transcriptional dysregulation and pathology in cultured human neurons by allele-specific excision.
Sachdev A, Gill K, Sckaff M, Birk AM, Aladesuyi Arogundade O, Brown KA, Chouhan RS, Issagholian-Lewin PO, Patel E, Watry HL, Bernardi MT, Keough KC, Tsai YC, Smith AST, Conklin BR, Clelland CD. Sachdev A, et al. Proc Natl Acad Sci U S A. 2024 Apr 23;121(17):e2307814121. doi: 10.1073/pnas.2307814121. Epub 2024 Apr 15. Proc Natl Acad Sci U S A. 2024. PMID: 38621131 Free PMC article.
Dual α-globin and truncated EPO receptor knockin restores hemoglobin production in α-thalassemia-derived red blood cells.
Chu SN, Soupene E, Wienert B, Yin H, Sharma D, McCreary T, Jia K, Homma S, Hampton JP, Gardner JM, Conklin BR, MacKenzie TC, Porteus MH, Cromer MK. Chu SN, et al. bioRxiv [Preprint]. 2024 May 7:2023.09.01.555926. doi: 10.1101/2023.09.01.555926. bioRxiv. 2024. Update in: Cell Rep. 2025 Jan 3;44(1):115141. doi: 10.1016/j.celrep.2024.115141 PMID: 38766216 Free PMC article. Updated. Preprint.