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Article

Establishment of a new human iPSC cell line (UOMi007-A) from a patient with Hypophosphatasia.

Stem cell research - 1 Aug 2022

Srivastava Abhay, Jaryal Rishma, Rockman-Greenberg Cheryl, Dhingra Sanjiv

Abstract excerpt

Hypophosphatasia (HPP) is a rare, inherited, metabolic, genetic disorder, which arises due to loss of function mutation in the alkaline phosphatase (ALPL) gene. We have created a new induced pluripotent stem cell line (UOMi007-A) from peripheral blood mononuclear cells (PBMCs) of an 18 yr. old male patient having compound heterozygous mutations in the ALPL gene c.571G>A (p.Glu191Lys) and c.1001G>A (p.Gly334Asp)...

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Identifiers

PMID: 35700635
DOI: 10.1016/j.scr.2022.102839

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