Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Generation of CRISPR/Cas9 modified human iPSC line with correction of heterozygous mutation in exon 6 of the CaSR gene.

Human cell - 24 Oct 2024

Semenova P I, Panova A V, Sopova J V, Krasnova O A, Turilova V I, Yakovleva T K, Kulikova K S, Petrova D A, Kiselev S L, Neganova I E

Abstract excerpt

The calcium-sensing receptor (CaSR) gene encodes a cell membrane G protein-coupled receptor (GPCR) which has a key role in maintaining the extracellular Ca2+ homeostasis. We aimed at correcting the compound heterozygous mutation in the 6th [c.1656delA, p.I554SfsX73] and 7th [c.2217 T > A, p.C739X] exons of the CASR gene which the original patient-derived iPSC line had. The mutation is associated with neonatal...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Differentiation
Share to CRISPR-Cas Systems

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Editing

Share to Hyperparathyroidism, Primary

Share to Induced Pluripotent Stem Cells

Share to Infant, Newborn, Diseases

Share to Precision Medicine

Share to Receptors, Calcium-Sensing

Source

Identifiers

PMID: 39446198
DOI: 10.1007/s13577-024-01135-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Generation of CRISPR/Cas9 modified human iPSC line with correction of heterozygous mutation in exon 6 of the CaSR gene.PMID 39446198Read ↗

Generation of an induced pluripotent stem cell line HPCASRi002-A from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the CASR gene.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene.Semantic proximity Read ↗

CRISPR/Cas9-Mediated Gene Correction in Osteopetrosis Patient-Derived iPSCs.Semantic proximity Read ↗

Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism.Semantic proximity Read ↗

Rare diseases caused by abnormal calcium sensing and signalling.Semantic proximity Read ↗

New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).Semantic proximity Read ↗

Generation of a gene corrected human isogenic iPSC line (CPGHi002-A-1) from a DDOD patient with heterozygous c.1516 C>T mutation in the ATP6V1B2 gene.Semantic proximity Read ↗

CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.Semantic proximity Read ↗

Calcium Signaling Consequences of RyR2-S4938F Mutation Expressed in Human iPSC-Derived Cardiomyocytes.Semantic proximity Read ↗

Establishing a human-induced pluripotent stem cell line SMUSHi005-A from a patient with hypophosphatemic vitamin D-resistant rickets carrying the PHEX c.1586-1586+1 delAG mutation.Semantic proximity Read ↗

Generation of human induced pluripotent stem cell lines carrying a heterozygous and homozygous PRKD1 c.1774G > A genetic variant causing syndromic congenital defects.Semantic proximity Read ↗

Generation of a CRISPR/Cas9-corrected-hiPSC line (DDLABi001-A) from Fabry disease (FD)-derived iPSCs having α-galactosidase (GLA) gene mutation (c.803_806del).Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.