ID   GM13322
AC   CVCL_GS84
DR   CLO; CLO_0013276
DR   BioSample; SAMN00802299
DR   Coriell; GM13322
DR   Wikidata; Q54846459
RX   PubMed=11393534;
CC   Sequence variation: Mutation; HGNC; HGNC:9155; PNLIP; Simple; p.Pro32Pro (c.96A>C) (96A/C); ClinVar=VCV000768391; Zygosity=Homozygous (PubMed=11393534).
CC   Sequence variation: Mutation; HGNC; HGNC:9155; PNLIP; Simple; p.Thr453Thr (c.1359C>T) (1359C/T); ClinVar=VCV000768392; Zygosity=Homozygous (PubMed=11393534).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129030; Pancreatic lipase deficiency
DI   ORDO; Orphanet_309031; Pancreatic triacylglycerol lipase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Transformed cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 12
//
RX   PubMed=11393534; DOI=10.1007/s100380170066;
RA   Hegele R.A., Ramdath D.D., Ban M.R., Carruthers M.N., Carrington C.V.,
RA   Cao H.-N.;
RT   "Polymorphisms in PNLIP, encoding pancreatic lipase, and associations
RT   with metabolic traits.";
RL   J. Hum. Genet. 46:320-324(2001).
//