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Cellosaurus SCVIi096-A (CVCL_D0LF)

[Text version]
Cell line name SCVIi096-A
Synonyms SCVI-675fs1
Accession CVCL_D0LF
Resource Identification Initiative To cite this cell line use: SCVIi096-A (RRID:CVCL_D0LF)
Comments From: Stanford Cardiovascular Institute; Palo Alto; USA.
Population: East Asian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 17574; ALPK3; Simple; p.Gln675Serfs (c.2023delC) (p.Gln473Serfs, c.1417del); ClinVar=VCV000427757; Zygosity=Heterozygous (PubMed=37944352).
Disease Familial hypertrophic cardiomyopathy type 27 (NCIt: C179054)
Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 41-50Y
Category Induced pluripotent stem cell
Publications

PubMed=37944352; DOI=10.1016/j.scr.2023.103233
Cheawsamoot C., Ramchandani R., Ameen M., Arthur Ataam J., Khongphatthanayothin A., Shotelersuk V., Karakikes I.
Generation of human induced pluripotent stem cell lines derived from four patients with a pathogenic ALPK3 variant associated with adult-onset hypertrophic cardiomyopathy (HCM).
Stem Cell Res. 73:103233-103233(2023)

Cross-references
Cell line databases/resources hPSCreg; SCVIi096-A
Biological sample resources BioSamples; SAMEA114192552
Encyclopedic resources Wikidata; Q123033439
Entry history
Entry creation05-Oct-2023
Last entry update02-May-2024
Version number3