Description:
MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB
MANNOSIDASE, BETA A, LYSOSOMAL; MANBA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Cell Type
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Fibroblast
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Tissue Type
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Involved skin
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Transformant
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Untransformed
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Race
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White
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Subject Type
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trio
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Norwegian, German
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Country of Origin
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USA
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Family Member
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2
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Family History
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N
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Relation to Proband
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mother
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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 |
4.98 |
| Passage Frozen |
2 |
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| Gene |
MANBA |
| Chromosomal Location |
4q24 |
| Allelic Variant 1 |
Trp > STOP; Mannosidosis, beta |
| Identified Mutation |
c.563_5/2dup (p.Trp192*) |
| Remarks |
Unaffected carrier. Heterozygous mutation in the MANBA gene c.563_572dup (p.Trp192X). Affected child is GM29051. |
| Gene Cards |
MANBA |
| Gene Ontology |
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds |
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GO:0004567 beta-mannosidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0006464 protein modification |
| NCBI Gene |
Gene ID:4126 |
| NCBI GTR |
248510 MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB |
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609489 MANNOSIDASE, BETA A, LYSOSOMAL; MANBA |
| OMIM |
248510 MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB |
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609489 MANNOSIDASE, BETA A, LYSOSOMAL; MANBA |
| Omim Description |
BETA-MANNOSIDASE DEFICIENCYMANNOSIDASE, BETA A, LYSOSOMAL, INCLUDED; MANBA, INCLUDED |
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MANNOSIDASE, BETA B, SOLUBLE, INCLUDED; MANBB, INCLUDED |
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MANNOSIDOSIS, BETA; MANB1 |
| Cumulative PDL at Freeze |
4.98 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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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