GM22870
Fibroblast from Skin, Unspecified
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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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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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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| PDL at Freeze |
7.73 |
| Passage Frozen |
6 |
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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 GM22227 Lymphoid; affected monozygotic twin sister (GM22871); 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) |
| Nunes MJ, Carvalho AN, Reis J, Costa D, Moutinho M, Mateus J, de Almeida RM, Brito S, Risso D, Nunes S, Castro-Caldas M, Gama MJ, Rodrigues CMP, Xapelli S, Diógenes MJ, Cartier N, Chali F, Piguet F, Rodrigues E, Cholesterol redistribution triggered by CYP46A1 gene therapy improves major hallmarks of Niemann-Pick type C disease but is not sufficient to halt neurodegeneration Biochimica et biophysica acta Molecular basis of disease:166993 2023 |
| PubMed ID: 38142760 |
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| Burbulla LF, Mc Donald JM, Valdez C, Gao F, Bigio EH, Krainc D, Modeling Brain Pathology of Niemann-Pick Disease Type C Using Patient-Derived Neurons Movement disorders : official journal of the Movement Disorder Society36:1022-1027 2020 |
| PubMed ID: 33438272 |
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| Höglinger D, Burgoyne T, Sanchez-Heras E, Hartwig P, Colaco A, Newton J, Futter CE, Spiegel S, Platt FM, Eden ER, NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress Nature communications10:4276 2017 |
| PubMed ID: 31537798 |
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| Maetzel D, Sarkar S, Wang H, Abi-Mosleh L, Xu P, Cheng AW, Gao Q, Mitalipova M, Jaenisch R, Genetic and chemical correction of cholesterol accumulation and impaired autophagy in hepatic and neural cells derived from Niemann-Pick Type C patient-specific iPS cells Stem cell reports2:866-80 2014 |
| PubMed ID: 24936472 |
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| Takamura A, Sakai N, Shinpoo M, Noguchi A, Takahashi T, Matsuda S, Yamamoto M, Narita A, Ohno K, Ohashi T, Ida H, Eto Y., The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear. Mol Genet Metab.(http://www.sciencedirect.com/science/article/pii/:866-80 2013 |
| PubMed ID: 24001525 |
| Passage Frozen |
6 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
10% |
| Percent O2 |
AMBIENT |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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