GM07968
Fibroblast from Skin, Fetal
Description:
GAUCHER DISEASE, TYPE I
GLUCOSIDASE, ACID BETA; GBA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
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Biopsy Source
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Fetal
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Fetal
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Race
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White
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Ethnicity
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JEWISH
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
5.39 |
| Passage Frozen |
6 |
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| glucosylceramidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.45 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
GBA |
| Chromosomal Location |
1q21 |
| Allelic Variant 1 |
606463.0001; GAUCHER DISEASE, NEURONOPATHIC |
| Identified Mutation |
LEU483PRO (LEU444PRO), 1448T>C; The leu444-to-pro (L444P) substitution in exon 10 of the GBA gene has been reported as resulting from a 1448T-C transition (Zimran et al., 1989) and from a 6433T-C transition (Latham et al., 1990), depending upon the reference sequence cited. This mutation has alternatively been referred to as LEU483PRO (Saranjam et al., 2013). |
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| Gene |
GBA |
| Chromosomal Location |
1q21 |
| Allelic Variant 2 |
606463.0001; GAUCHER DISEASE, NEURONOPATHIC |
| Identified Mutation |
LEU483PRO (LEU444PRO), 1448T>C; The leu444-to-pro (L444P) substitution in exon 10 of the GBA gene has been reported as resulting from a 1448T-C transition (Zimran et al., 1989) and from a 6433T-C transition (Latham et al., 1990), depending upon the reference sequence cited. This mutation has alternatively been referred to as LEU483PRO (Saranjam et al., 2013). |
| Remarks |
Fetal skin fibroblast culture; positive family history; deficient beta-glucosidase activity in cultured amniotic fluid cells; Jewish; donor subject is homozygous for a T>C transition at nucleotide 1448 (1448T>C) in exon 10 of the GBA gene resulting in a substitution at codon 444, Proline for Leucine [Leu444Pro (L444P)]; [codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG] |
| Ciccaldo M, Pérez-Carmona N, Piovesana E, Cano-Crespo S, Ruano A, Delgado A, Fregno I, Calvo-Flores Guzmán B, Bellotto M, Molinari M, Taylor J, Papin S, García-Collazo AM, Paganetti P, A novel allosteric GCase modulator prevents Tau accumulation in GBA1 Scientific reports15:17646 2025 |
| PubMed ID: 40399377 |
| Gene Cards |
GBA |
| Gene Ontology |
GO:0004348 glucosylceramidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0006665 sphingolipid metabolism |
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GO:0007040 lysosome organization and biogenesis |
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GO:0016020 membrane |
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GO:0016798 hydrolase activity, acting on glycosyl bonds |
| NCBI Gene |
Gene ID:2629 |
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Gene ID:2630 |
| NCBI GTR |
230800 GAUCHER DISEASE, TYPE I; GD1 |
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606463 GLUCOSIDASE, BETA, ACID; GBA |
| OMIM |
230800 GAUCHER DISEASE, TYPE I; GD1 |
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606463 GLUCOSIDASE, BETA, ACID; GBA |
| Omim Description |
ACID BETA-GLUCOSIDASE DEFICIENCY |
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GAUCHER DISEASE, NONCEREBRAL JUVENILE |
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GAUCHER DISEASE, TYPE I |
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GBA DEFICIENCYGLUCOSIDASE, ACID BETA, INCLUDED; GBA, INCLUDED |
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GD I |
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GLUCOCEREBROSIDASE DEFICIENCY |
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GLUCOCEREBROSIDASE PSEUDOGENE, INCLUDED; GBAP, INCLUDED |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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