A human induced pluripotent stem cell line, NIMHi016-A, established from fibroblasts of a neuromuscular disease patient carrying PGK1/p. Asn5Lys variant.

PGK1 (phosphoglycerate kinase-1) is required for ATP production in the body. Mutation in the PGK1 gene causes a rare, inherited metabolic disorder causing deficiency of enzyme PGK1, leading to hemolytic anemia, neurological symptoms, and muscle weakness. We generated induced pluripotent stem cells (iPSCs) from a patient carrying a PGK1 variant by isolating fibroblasts from skin punch biopsy and reprogramming using CytoTune iPS 2.

Clinical and radiological insights into fibrodysplasia ossificans progressiva: A report on two cases.

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic illness marked by progressive heterotopic ossification of tendons, ligaments, fascia, and skeletal muscle, leading to immobility and reduced quality of life. Early recognition is critical to avoiding flare-ups often triggered by trivial trauma or medical interventions. This report presents two early-diagnosed FOP cases-one at 6 months, the other at 18 months-both with typical features and congenital great toe abnormalities.

Transabdominal Preperitoneal (TAPP) Compared to Totally Extraperitoneal (TEP) for Primary Inguinal Hernia Repair in a Military Hospital: A Retrospective Cohort Study.

Background: Inguinal hernias are encountered commonly, but there is a lack of uniformity and standardization in repair techniques. There are a variety of repair methods, from open methods to laparoscopic approaches. The available laparoscopic techniques that exist for inguinal hernia repair are transabdominal preperitoneal (TAPP) repair and totally extraperitoneal (TEP) repair.

Search for CP-Violating Neutrino Nonstandard Interactions with the NOvA Experiment.

This Letter reports a search for charge-parity (CP) symmetry violating nonstandard interactions (NSI) of neutrinos with matter using the NOvA Experiment, and examines their effects on the determination of the standard oscillation parameters. Data from ν_{μ}(ν[over ¯]_{μ})→ν_{μ}(ν[over ¯]_{μ}) and ν_{μ}(ν[over ¯]_{μ})→ν_{e}(ν[over ¯]_{e}) oscillation channels are used to measure the effect of the NSI parameters ϵ_{eμ} and ϵ_{eτ}. With 90% CL the magnitudes of the NSI couplings are constrained to be |ϵ_{eμ}|≲0.

Enrichment of Vitamin A and Vitamin E in Sweet Corn Kernels Through Genomics-Assisted Introgression of Mutant Version of crtRB1 and vte4 Genes.

Recessive shrunken2 (sh2)-based sweet corn is preferred worldwide as it possesses higher sugar and extended shelf life. However, traditional sh2-based sweet corn is poor in vitamin A and vitamin E. Here, parental lines of two sh2-based sweet corn hybrids, viz.