In this study we report reprogramming and generation of a new human induced pluripotent stem cell line UOMi009_A, which was generated from a 64 year old male patient with childhood onset Hypophosphatasia (HPP). The patient has compound heterozygous mutations in the ALPL gene (c.571G>A (p.Glu191Lys) and c.1001G>A (p.Gly334Asp)) which were confirmed in the UOMi009_A line. This line was well characterized and will help in our future assessment of HPP disease pathophysiology and drug screening.
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| http://dx.doi.org/10.1016/j.scr.2022.102921 | DOI Listing |
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Reprogramming of Hypophosphatasia patient cells to generate a new human iPSC cell line (UOMi009-A).
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In this study we report reprogramming and generation of a new human induced pluripotent stem cell line UOMi009_A, which was generated from a 64 year old male patient with childhood onset Hypophosphatasia (HPP). The patient has compound heterozygous mutations in the ALPL gene (c.571G>A (p.
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Department of Pediatric Dentistry, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima 890-8544, Japan.
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