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Overview
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Collection
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Inherited Disorders |
| Class |
Disorders of Lipid Metabolism |
| Sample Description |
GAUCHER DISEASE, TYPE II
GLUCOSIDASE, ACID BETA; GBA |
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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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Species
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Homo sapiens
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Common Name
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Human
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Sex
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Male
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Race
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Caucasian
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Ethnicity
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LEBANESE
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Relation to Proband
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proband
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Clinically Affected
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Yes
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Confirmation
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Molecular characterization before cell line submission to CCR
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Remarks
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| Catalog ID |
GM20273 |
| Product |
Cell Culture |
| Pricing |
Commercial Pricing: $85.00
Academic and not-for-profit pricing: $85.00 |
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How to Order
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Online Ordering
Assurance Form (Must have current form on file)
Statement of Research Intent Form (Information will be entered electronically when order is placed. DO NOT fax form to Coriell Customer Service)
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Characterizations
| Sample Description |
GAUCHER DISEASE, TYPE II
GLUCOSIDASE, ACID BETA; GBA |
| Passage Frozen |
10 |
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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 |
crossover between GBA and pseudogene; GAUCHER DISEASE, TYPE II OR III |
| Identified Mutation |
RECOMBINANT (EXON 9) |
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| Gene |
GBA |
| Chromosomal Location |
1q21 |
| Allelic Variant 2 |
crossover between GBA and pseudogene; GAUCHER DISEASE, TYPE II OR III |
| Identified Mutation |
RECOMBINANT (EXON 9) |
| DNA Profile |
| D10S526 |
194, 246 |
| D22S417 |
181, 197 |
| D5S592 |
182, 182 |
| FES/FPS |
220, 224 |
| THO-1 |
167, 171 |
| VWA31 |
153, 161 |
Phenotypic Data
| Remark |
Clinically affected; fetal hydrops; hepatosplenomegaly noted prenatally; abnormal fetal movements in utero; congenital ichthyosis; infant died within 2 hours of birth; autopsy revealed colloidin-type skin, ectropia of eyes, flattened nose, absent palmar and distal pharyngeal flexure creases, flexion deformities of the left fifth finger and knee, low-set ears, hypoplastic nails and digits, massive hepatosplenomegaly, bilateral eventration of the diaphragm, ventricular septal defect, and biventricular hypertrophy; neonatal blood testing revealed thrombocytopenia, markedly raised white cell count, raised alkaline phosphatase, raised lactate and pyruvate; biopsies from all organs showed infiltration with cells characteristic of Gaucher's; leucocyte B-glucocerebrosidase activity was markedly deficient; donor subject is homozygous for a recombinant allele due to a crossover at the end of exon 9 or the beginning of intron 9 between the GBA gene and its pseudogene. |
Publications
| Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E, Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum Mutat15(2):181-8 2000 |
| PubMed ID: 10649495 |
Culture Protocols
| Passage Frozen |
10 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
8% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
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