GM22227
LCL from B-Lymphocyte
Description:
NIEMANN-PICK DISEASE, TYPE C1; NPC1
NPC1 GENE; NPC1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Family Member
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1
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Family History
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N
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 1 |
; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
1920delG |
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| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 2 |
193 bp insertion; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
IVS9-1009G>A |
| Remarks |
Clinically affected; delivered via C-section at 35 weeks gestation with a 2 vessel umbilical cord; hospitalized 10 days for feeding issues; splenomegaly first noted at 2 years of age; developmental delay and mild ataxia; hepatomegaly noted at age 3 years and 9 months; persistent mild elevated AST and LDH; elevated DHEA; mild leukopenia; mild eosinophilia; fatigues easily; difficulty following directions; some phonological process and syntax deficits; see GM22870 Fibroblast; affected monozygotic twin sister (GM22256); donor subject has a 1 bp deletion in exon 12 of the NPC1 gene (1920delG) inherited from her mother; her paternal mutation is a missense mutation (IVS9-1009G>A) |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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