Description:
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II, OR JUVENILE TYPE
GALACTOSIDASE, BETA-1; GLB1
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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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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Ethnicity
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TURKISH
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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 |
4.59 |
| Passage Frozen |
19 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| beta-galactosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.23 |
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| Gene |
GLB1 |
| Chromosomal Location |
3p22.3 |
| Allelic Variant 1 |
611458.0003; GM1-GANGLIOSIDOSIS, LATE-INFANTILE/JUVENILE TYPE |
| Identified Mutation |
ARG201CYS; In 4 Japanese patients with the juvenile form of GM1-gangliosidosis, Nishimoto et al. (1991) found a point mutation resulting in substitution of cysteine for arginine-201. In a Japanese patient with a late-infantile/juvenile form of GM1-gangliosidosis, Yoshida et al. (1991) found a CGC-to-TGC change at codon 201 leading to substitution of cysteine for arginine and elimination of a BspMI site. The patient was heterozygous for this mutation.
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| Gene |
GLB1 |
| Chromosomal Location |
3p22.3 |
| Allelic Variant 2 |
611458.0003; GM1-GANGLIOSIDOSIS, LATE-INFANTILE/JUVENILE TYPE |
| Identified Mutation |
ARG201CYS; In 4 Japanese patients with the juvenile form of GM1-gangliosidosis, Nishimoto et al. (1991) found a point mutation resulting in substitution of cysteine for arginine-201. In a Japanese patient with a late-infantile/juvenile form of GM1-gangliosidosis, Yoshida et al. (1991) found a CGC-to-TGC change at codon 201 leading to substitution of cysteine for arginine and elimination of a BspMI site. The patient was heterozygous for this mutation.
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| Remarks |
Line WG406 from Canadian Repository; deficient B-galactosidase activity; 46,XY; most likely Type II based upon information received from Canadian Repository in 1992 |
| Scotto Rosato A, Krogsaeter EK, Jaslan D, Abrahamian C, Montefusco S, Soldati C, Spix B, Pizzo MT, Grieco G, Böck J, Wyatt A, Wünkhaus D, Passon M, Stieglitz M, Keller M, Hermey G, Markmann S, Gruber-Schoffnegger D, Cotman S, Johannes L, Crusius D, Boehm U, Wahl-Schott C, Biel M, Bracher F, De Leonibus E, Polishchuk E, Medina DL, Paquet D, Grimm C, TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease EMBO molecular medicine14:e15377 2022 |
| PubMed ID: 35929194 |
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| Son MY, Kwak JE, Seol B, Lee DY, Jeon H, Cho YS, A novel human model of the neurodegenerative disease GM1 gangliosidosis using induced pluripotent stem cells demonstrates inflammasome activation The Journal of pathology237:98-110 2015 |
| PubMed ID: 25925601 |
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| Kleijer WJ, Van der Veer E, Niermeijer MF, Rapid prenatal diagnosis of GM1-gangliosidosis using microchemical methods. Hum Genet33:299-305 1976 |
| PubMed ID: 823094 |
| Passage Frozen |
19 |
| Split Ratio |
1:2 |
| 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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