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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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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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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identical twin sister
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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 |
6.85 |
| Passage Frozen |
7 |
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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; hospitalized 10 days for feeding issues; splenomegaly first noted at 2 years of age; global developmental delay more pronounced in fine and gross motor skills with early signs of ataxia; hepatomegaly noted at age 3 years and 9 months; persistent mild elevated AST and LDH; elevated DHEA; mild leukopenia; regression of speech; see GM22256 Lymphoid; affected monozygotic twin sister (GM22870); 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) |
| 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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| 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 |
| Passage Frozen |
7 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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