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Generation of induced pluripotent stem cell line (IGIBi007-A) from a patient with a novel acromesomelic dysplasia, PRKG2 type (AMDP).

Stem cell research - 1 May 2021

Kumar Manish, Wadhwa Saruchi, Tyagi Nishu, Ahmad Istaq, Kumar Somesh, Sagar Shakti, Zahra Sana, Kamai Asangla, Shamim Uzma, Kapoor Seema, Faruq Mohammed

Abstract excerpt

Biallelic PRKG2 (Protein Kinase, cGMP dependent Type-2) mutations cause a novel acromesomelic dysplasia PRKG2 type. We report generation of induced pluripotent stem cell line from lymphoblastoid cell lines of the patient carrying the reported frameshift mutation (p.Asn164Lysfs*2). The derived iPSC line exhibits all the features of pluripotency, free of major genetic alterations due to reprogramming process and...

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PMID: 33887582
DOI: 10.1016/j.scr.2021.102340

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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