GM20272
Fibroblast from Skin, Unspecified
Description:
GAUCHER DISEASE, TYPE III
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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Unspecified
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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, Unspecified
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before 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 |
5.9 |
| Passage Frozen |
12 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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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 |
Clinically affected; hepatosplenomegaly; slowed horizontal saccades; donor subject is homozygous for a T>C transition at nucleotide 1448 in exon 10 of the GBA gene [1448T>C] resulting in a substitution of proline for leucine at codon 444 [Leu444Pro (L444P)]. |
| Di XJ, Wang YJ, Cotter E, Wang M, Whittsette AL, Han DY, Sangwung P, Brown R, Lynch JW, Keramidas A, Mu TW, Proteostasis Regulators Restore Function of Epilepsy-Associated GABA Cell chemical biology28:46-59.e7 2021 |
| PubMed ID: 32888501 |
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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 |
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| 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 |
| 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 |
| NCBI GTR |
231000 GAUCHER DISEASE, TYPE III; GD3 |
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606463 GLUCOSIDASE, BETA, ACID; GBA |
| OMIM |
231000 GAUCHER DISEASE, TYPE III; GD3 |
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606463 GLUCOSIDASE, BETA, ACID; GBA |
| Omim Description |
GAUCHER DISEASE, CHRONIC NEURONOPATHIC TYPE |
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GAUCHER DISEASE, JUVENILE AND ADULT, CEREBRAL |
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GAUCHER DISEASE, SUBACUTE NEURONOPATHIC TYPEGAUCHER DISEASE, NORRBOTTNIAN TYPE, INCLUDED |
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GAUCHER DISEASE, TYPE III |
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GD III |
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NORRBOTTNIAN GAUCHER DISEASE, INCLUDED |
| Passage Frozen |
12 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
Gelatin |
| Supplement |
- |
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