GM23151
Fibroblast from Skin, Arm
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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Arm
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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, Arm
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Race
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White
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Ethnicity
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HUNGARIAN/IRISH
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Family Member
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3
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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 |
7.54 |
| Passage Frozen |
4 |
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| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 1 |
; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
1920delG |
| Remarks |
Clinically normal mother of affected monozygotic twins (GM22227 and GM22256); see GM22566 Lymphoid; donor subject has a 1 bp deletion in exon 12 of the NPC1 gene (1920delG); This fibroblast is a characteristically poor grower and will only be shipped frozen; requires particular care during growth; the recommended seeding density is 15,000 to 20,000 cells per cm2. |
| 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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| Miyamoto T, Hosoba K, Itabashi T, Iwane AH, Akutsu SN, Ochiai H, Saito Y, Yamamoto T, Matsuura S, Insufficiency of ciliary cholesterol in hereditary Zellweger syndrome The EMBO journal36:e103499 2019 |
| PubMed ID: 32368833 |
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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 |
| Cumulative PDL at Freeze |
10.73 |
| Passage Frozen |
4 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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