Cellosaurus logo
expasy logo

Cellosaurus HG03625 (CVCL_R240)

[Text][XML][JSON]
Cell line name HG03625
Accession CVCL_R240
Resource Identification Initiative To cite this cell line use: HG03625 (RRID:CVCL_R240)
Comments Part of: International Genome Sample Resource (1000 genomes project) cell lines.
Population: Punjabi in Lahore (PJL).
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: Genomics; Whole genome sequencing.
Omics: Variations; CNV analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Gene amplification; HGNC; HGNC:11118; SMN2; Quadruplication; Zygosity=Unspecified (PubMed=33197628).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Transformed cell line
Publications

PubMed=33197628; DOI=10.1016/j.jmoldx.2020.10.011; PMCID=PMC9641717
Thomas W. Prior, Pinar Bayrak-Toydemir, Tyler C. Lynnes, Rong Mao, James D. Metcalf, Kasinathan Muralidharan, Aiko Iwata-Otsubo, Ha T. Pham, Victoria M. Pratt, Shumaila Qureshi, Deborah Vicuna Requesens ...Show all 14 authors... , Jun-Qing Shen, Francesco Vetrini, Lisa V. Kalman; Show fewer authors
Characterization of reference materials for spinal muscular atrophy genetic testing: a genetic testing reference materials coordination program collaborative project.
J. Mol. Diagn. 23:103-110(2021)

Cross-references
Cell line collections (Providers) Coriell; HG03625
Biological sample resources BioSamples; SAME1839719
IGSR; HG03625
Encyclopedic resources Wikidata; Q54885461
Gene expression databases GEO; GSM1719442
Entry history
Entry creation05-Nov-2013
Last entry update10-Apr-2025
Version number15