Cellosaurus cell line GM13322 (CVCL

Cross-references
Cell line name	GM13322
Accession	CVCL_GS84
Resource Identification Initiative	To cite this cell line use: GM13322 (RRID:CVCL_GS84)
Comments	Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:9155; PNLIP; Simple; p.Pro32Pro (c.96A>C) (96A/C); ClinVar=VCV000768391; Zygosity=Homozygous (PubMed=11393534). Mutation; HGNC; HGNC:9155; PNLIP; Simple; p.Thr453Thr (c.1359C>T) (1359C/T); ClinVar=VCV000768392; Zygosity=Homozygous (PubMed=11393534).
Disease	Pancreatic lipase deficiency (NCIt: C129030) Pancreatic triacylglycerol lipase deficiency (ORDO: Orphanet_309031)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	2Y
Category	Transformed cell line
Publications	PubMed=11393534; DOI=10.1007/s100380170066 Hegele R.A., Ramdath D.D., Ban M.R., Carruthers M.N., Carrington C.V., Cao H.-N. Polymorphisms in PNLIP, encoding pancreatic lipase, and associations with metabolic traits. J. Hum. Genet. 46:320-324(2001)
Cell line collections (Providers)	Coriell; GM13322
Cell line databases/resources	CLO; CLO_0013276
Biological sample resources	BioSample; SAMN00802299
Encyclopedic resources	Wikidata; Q54846459
Entry history
Entry creation	26-Sep-2016
Last entry update	19-Dec-2024
Version number	12