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NA00852 DNA from Fibroblast

Description:

GAUCHER DISEASE, TYPE I
GLUCOSIDASE, ACID BETA; GBA

Affected:

Yes

Sex:

Male

Age:

20 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
GeT-RM Samples
Class Disorders of Lipid Metabolism
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Family Member 1
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks 6% of control fibroblast glucocerebrosidase activity; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 1226 in exon 9 of the GBA gene [1226A>G] resulting in a subtitution of serine for asparagine at codon 370 [Asn370Ser (N370S)] and a second allele has an insertion of a second guanine at cDNA nucleotide 84 [84_85insG, 84GG] (codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG).

Characterizations

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PDL at Freeze 4.7
Passage Frozen 7
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
MUTATION VERIFICATION The gene mutation(s) in this sample have been verified by 6 laboratories.
 
glucosylceramidase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.45; 6% activity.
 
Gene GBA
Chromosomal Location 1q21
Allelic Variant 1 606463.0003; GAUCHER DISEASE, TYPE I
Identified Mutation ASN370SER; By nucleotide sequence analysis of a genomic clone from an Ashkenazi Jewish patient with type I, Tsuji et al. [Proc. Nat. Acad. Sci. 85: 2349-2352 (1988] found a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change resulted in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confirmed that the mutation results in loss of glucocerebrosidase activity. This mutation [1226G (N370S)] accounts for approximately 70% of mutations in the Jewish population.
 
Gene GBA
Chromosomal Location 1q21
Allelic Variant 2 606463.0014; GAUCHER DISEASE, TYPE I
Identified Mutation 1-BP INS, 84G; Beutler et al. [Proc. Nat. Acad. Sci. 88: 10544-10547 (1991)] found a second common Jewish Gaucher disease mutation in addition to the A-to-G mutation of nucleotide 1226, which accounts for about 75% of mutant alleles in Ashkenazi Jews (606463.0003). The new mutation consisted of insertion of a second guanine at cDNA nucleotide 84 and was referred to as the 84GG mutation. The 84GG and A1226G mutations, along with the less-common mutation at nucleotide 1448 (606463.0001), account for 95% of all Gaucher disease-producing alleles in Ashkenazi Jews.

Phenotypic Data

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Remarks 6% of control fibroblast glucocerebrosidase activity; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 1226 in exon 9 of the GBA gene [1226A>G] resulting in a subtitution of serine for asparagine at codon 370 [Asn370Ser (N370S)] and a second allele has an insertion of a second guanine at cDNA nucleotide 84 [84_85insG, 84GG] (codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG).

Publications

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Basgalupp SP, Siebert M, Ferreira C, Behringer S, Spiekerkoetter U, Hannibal L, Schwartz IVD, Assessment of cellular cobalamin metabolism in Gaucher disease BMC medical genetics21:12 2019
PubMed ID: 31931749
 
Chen Y1,2, Jian J1, Hettinghouse A1, Zhao X3, Setchell KDR3, Sun Y3, Liu CJ4,5, Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease J Mol Med96:1359-1373 2018
PubMed ID: 30341570
 
Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee and Inho ParkEmail, DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data BMC Bioinformatics19:1359-1373 2018
PubMed ID: 30326846
 
Mazzulli JR, Xu YH, Sun Y, Knight AL, McLean PJ, Caldwell GA, Sidransky E, Grabowski GA, Krainc D, Gaucher disease glucocerebrosidase and a-synuclein form a bidirectional pathogenic loop in synucleinopathies Cell146:37-52 2010
PubMed ID: 21700325
 
Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K, Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent The Journal of molecular diagnostics : JMD11:530-6 2009
PubMed ID: 19815695
 
Park IH, Arora N, Huo H, Maherali N, Ahfeldt T, Shimamura A, Lensch MW, Cowan C, Hochedlinger K, Daley GQ, Disease-Specific Induced Pluripotent Stem Cells Cell134(5):877-86 2008
PubMed ID: 18691744
 
Sasagasako N, Kobayashi T, Yamaguchi Y, Shinnoh N, Goto I, Glucosylceramide and glucosylsphingosine metabolism in cultured fibroblasts deficient in acid beta-glucosidase activity. J Biochem (Tokyo)115:113-9 1994
PubMed ID: 8188616
 
Reiner O, Wilder S, Givol D, Horowitz M, Efficient in vitro and in vivo expression of human glucocerebrosidase cDNA. DNA6:101-8 1987
PubMed ID: 2438102
 
Beutler E, Kuhl W, Sorge J, Cross-reacting material in Gaucher disease fibroblasts. Proc Natl Acad Sci U S A81:6506-10 1984
PubMed ID: 6593712
 
Turner BM, Hirschhorn K, Properties of beta-glucosidase in cultured skin fibroblasts from controls and patients with Gaucher disease. Am J Hum Genet30:346-58 1978
PubMed ID: 102189
 
Neufeld EF, Liebaers I, Epstein CJ, Yatziv S, Milunsky A, Migeon BR, The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Am J Hum Genet29:455-61 1977
PubMed ID: 409284

External Links

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dbSNP dbSNP ID: 10367
Gene Cards GBA
Gene Ontology GO:0004348 glucosylceramidase activity
GO:0005764 lysosome
GO:0005975 carbohydrate metabolism
GO:0006665 sphingolipid metabolism
GO:0007040 lysosome organization and biogenesis
GO:0016020 membrane
GO:0016798 hydrolase activity, acting on glycosyl bonds
GEO GEO Accession No: GSM452735
GEO Accession No: GSM455535
NCBI Gene Gene ID:2629
Gene ID:2630
NCBI GTR 230800 GAUCHER DISEASE, TYPE I; GD1
606463 GLUCOSIDASE, BETA, ACID; GBA
OMIM 230800 GAUCHER DISEASE, TYPE I; GD1
606463 GLUCOSIDASE, BETA, ACID; GBA
Omim Description ACID BETA-GLUCOSIDASE DEFICIENCY
  GAUCHER DISEASE, NONCEREBRAL JUVENILE
  GAUCHER DISEASE, TYPE I
  GBA DEFICIENCYGLUCOSIDASE, ACID BETA, INCLUDED; GBA, INCLUDED
  GD I
  GLUCOCEREBROSIDASE DEFICIENCY
  GLUCOCEREBROSIDASE PSEUDOGENE, INCLUDED; GBAP, INCLUDED
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