ID   GM05659
AC   CVCL_7434
SY   GM5659; GM-5659; GM 5659; GM05659B; GM5659B; GM05659C; GM 5659C; GM05659D; GM5659D
DR   CLO; CLO_0024626
DR   EFO; EFO_0006278
DR   Coriell; GM05659
DR   GEO; GSE11919
DR   GEO; GSM3124625
DR   Wikidata; Q54841910
RX   CelloPub=CLPUB00447;
RX   CelloPub=CLPUB00720;
RX   PubMed=1652892;
RX   PubMed=2475503;
RX   PubMed=2705456;
RX   PubMed=2837086;
RX   PubMed=3745952;
RX   PubMed=8605078;
RX   PubMed=17668376;
RX   PubMed=18973801;
RX   PubMed=24119401;
RX   PubMed=25732146;
RX   PubMed=27543334;
RX   PubMed=30220252;
RX   PubMed=30497978;
RX   PubMed=30567591;
RX   PubMed=33038742;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Thr408Met (c.1223C>T) (T369M); ClinVar=VCV000093447; Zygosity=Heterozygous (PubMed=30497978).
CC   Omics: Transcriptome analysis by microarray.
CC   Omics: Transcriptome analysis by RNAseq.
CC   Derived from site: In situ; Chest, skin; UBERON=UBERON_0001868.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y2M
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 29-06-23; Version: 27
//
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).
//
RX   CelloPub=CLPUB00720;
RA   Greene A.E., Mulivor R.A.;
RT   "1986/1987 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 13th edition. October 1986.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda; USA (1986).
//
RX   PubMed=1652892; PMCID=PMC1683123;
RA   Zhong N., Martiniuk F., Tzall S., Hirschhorn R.;
RT   "Identification of a missense mutation in one allele of a patient with
RT   Pompe disease, and use of endonuclease digestion of PCR-amplified RNA
RT   to demonstrate lack of mRNA expression from the second allele.";
RL   Am. J. Hum. Genet. 49:635-645(1991).
//
RX   PubMed=2475503; DOI=10.1016/S0021-9258(19)84861-5;
RA   Perry M.E., Jones M.E.;
RT   "Orotic aciduria fibroblasts express a labile form of UMP synthase.";
RL   J. Biol. Chem. 264:15522-15528(1989).
//
RX   PubMed=2705456; PMCID=PMC1715639;
RA   Weiss M.J., Ray K., Fallon M.D., Whyte M.P., Fedde K.N.,
RA   Lafferty M.A., Mulivor R.A., Harris H.;
RT   "Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and
RT   enzymatic activity in cultured skin fibroblasts from 14 unrelated
RT   patients with severe hypophosphatasia.";
RL   Am. J. Hum. Genet. 44:686-694(1989).
//
RX   PubMed=2837086; PMCID=PMC1715274;
RA   Winkler J.K., Suttle D.P.;
RT   "Analysis of UMP synthase gene and mRNA structure in hereditary orotic
RT   aciduria fibroblasts.";
RL   Am. J. Hum. Genet. 43:86-94(1988).
//
RX   PubMed=3745952; DOI=10.1111/1523-1747.ep12285424;
RA   Sephel G.C., Davidson J.M.;
RT   "Elastin production in human skin fibroblast cultures and its decline
RT   with age.";
RL   J. Invest. Dermatol. 86:279-285(1986).
//
RX   PubMed=8605078; DOI=10.1007/BF02789413;
RA   Vazquez F., Grider A.;
RT   "The effect of the acrodermatitis enteropathica mutation on zinc
RT   uptake in human fibroblasts.";
RL   Biol. Trace Elem. Res. 50:109-117(1995).
//
RX   PubMed=17668376; DOI=10.1086/519248; PMCID=PMC1950802;
RA   Prandini P., Deutsch S., Lyle R., Gagnebin M., Delucinge-Vivier C.,
RA   Delorenzi M., Gehrig C., Descombes P., Sherman S.L.,
RA   Dagna-Bricarelli F., Baldo C., Novelli A., Dallapiccola B.,
RA   Antonarakis S.E.;
RT   "Natural gene-expression variation in Down syndrome modulates the
RT   outcome of gene-dosage imbalance.";
RL   Am. J. Hum. Genet. 81:252-263(2007).
//
RX   PubMed=18973801; DOI=10.1016/j.freeradbiomed.2008.09.028;
RA   Duarte T.L., Cooke M.S., Jones G.D.D.;
RT   "Gene expression profiling reveals new protective roles for vitamin C
RT   in human skin cells.";
RL   Free Radic. Biol. Med. 46:78-87(2009).
//
RX   PubMed=24119401; DOI=10.1016/j.molcel.2013.09.009; PMCID=PMC4039290;
RA   Chen J.-Y., Lin J.-R., Tsai F.-C., Meyer T.;
RT   "Dosage of Dyrk1a shifts cells within a p21-cyclin D1 signaling map to
RT   control the decision to enter the cell cycle.";
RL   Mol. Cell 52:87-100(2013).
//
RX   PubMed=25732146; DOI=10.2174/1566524015666150303110300; PMCID=PMC4428755;
RA   Kano S.-i., Yuan M., Cardarelli R.A., Maegawa G., Higurashi N.,
RA   Gaval-Cruz M., Wilson A.M., Tristan C.A., Kondo M.A., Chen Y., Koga M.,
RA   Obie C., Ishizuka K., Seshadri S., Srivastava R., Kato T.A.,
RA   Horiuchi Y., Sedlak T.W., Lee Y., Rapoport J.L., Hirose S., Okano H.,
RA   Valle D.L., O'Donnell P., Sawa A., Kai M.;
RT   "Clinical utility of neuronal cells directly converted from
RT   fibroblasts of patients for neuropsychiatric disorders: studies of
RT   lysosomal storage diseases and channelopathy.";
RL   Curr. Mol. Med. 15:138-145(2015).
//
RX   PubMed=27543334; DOI=10.1073/pnas.1610020113; PMCID=PMC5018765;
RA   Reid-Bayliss K.S., Arron S.T., Loeb L.A., Bezrookove V., Cleaver J.E.;
RT   "Why Cockayne syndrome patients do not get cancer despite their DNA
RT   repair deficiency.";
RL   Proc. Natl. Acad. Sci. U.S.A. 113:10151-10156(2016).
//
RX   PubMed=30220252; DOI=10.1186/s13023-018-0886-3; PMCID=PMC6139903;
RA   Vu M., Li R., Baskfield A., Lu B., Farkhondeh A., Gorshkov K.,
RA   Motabar O., Beers J.K., Chen G.-K., Zou J.-Z., Espejo-Mojica A.J.,
RA   Rodriguez-Lopez A., Almeciga-Diaz C.J., Barrera L.A., Jiang X.-T.,
RA   Ory D.S., Marugan J.J., Zheng W.;
RT   "Neural stem cells for disease modeling and evaluation of therapeutics
RT   for Tay-Sachs disease.";
RL   Orphanet J. Rare Dis. 13:152.1-152.15(2018).
//
RX   PubMed=30497978; DOI=10.1016/j.ebiom.2018.11.037; PMCID=PMC6306395;
RA   Fog C.K., Zago P., Malini E., Solanko L.M., Peruzzo P., Bornaes C.,
RA   Magnoni R., Mehmedbasic A., Petersen N.H.T., Bembi B., Aerts J.F.M.G.,
RA   Dardis A., Kirkegaard T.;
RT   "The heat shock protein amplifier arimoclomol improves refolding,
RT   maturation and lysosomal activity of glucocerebrosidase.";
RL   EBioMedicine 38:142-153(2018).
//
RX   PubMed=30567591; DOI=10.1186/s13059-018-1599-6; PMCID=PMC6300908;
RA   Fleischer J.G., Schulte R., Tsai H.H., Tyagi S., Ibarra A.,
RA   Shokhirev M.N., Huang L., Hetzer M.W., Navlakha S.;
RT   "Predicting age from the transcriptome of human dermal fibroblasts.";
RL   Genome Biol. 19:221.1-221.8(2018).
//
RX   PubMed=33038742; DOI=10.1016/j.scr.2020.102011; PMCID=PMC7810501;
RA   Xu X.-G., Pradhan M., Xu M., Cheng Y.-S., Beers J.K., Linask K.L.,
RA   Lin Y.-S., Zheng W., Zou J.-H.;
RT   "Four induced pluripotent stem cell lines (TRNDi021-C, TRNDi023-D,
RT   TRNDi024-D and TRNDi025-A) generated from fibroblasts of four healthy
RT   individuals.";
RL   Stem Cell Res. 49:102011-102011(2020).
//