ID   GM06248
AC   CVCL_5U21
SY   GM6248
DR   CLO; CLO_0023108
DR   Coriell; GM06248
DR   Wikidata; Q54842237
RX   CelloPub=CLPUB00447;
RX   PubMed=3353369;
RX   PubMed=23665875;
CC   Population: Native North American; Salish.
CC   Sequence variation: Mutation; HGNC; 399; ALB; Simple; c.714-2A>G (IVS6AS,A-G,-2); ClinVar=VCV000018210; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=3353369).
CC   Omics: CNV analysis.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C124851; Analbuminemia
DI   ORDO; Orphanet_86816; Congenital analbuminemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   12Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 12
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RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
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RX   PubMed=3353369; DOI=10.1073/pnas.85.7.2125; PMCID=PMC279941;
RA   Ruffner D.E., Dugaiczyk A.;
RT   "Splicing mutation in human hereditary analbuminemia.";
RL   Proc. Natl. Acad. Sci. U.S.A. 85:2125-2129(1988).
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RX   PubMed=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242;
RA   Tang Z.-Y., Berlin D.S., Toji L.H., Toruner G.A., Beiswanger C.M.,
RA   Kulkarni S., Martin C.L., Emanuel B.S., Christman M., Gerry N.P.;
RT   "A dynamic database of microarray-characterized cell lines with
RT   various cytogenetic and genomic backgrounds.";
RL   G3 (Bethesda) 3:1143-1149(2013).
//