GM23945
Fibroblast from Skin, Skin
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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Skin
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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, Skin
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Race
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White
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Ethnicity
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German-Hungarian
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Family Member
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5
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Family History
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Y
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Relation to Proband
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maternal grandmother
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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 |
5.28 |
| Passage Frozen |
2 |
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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 |
| Remarks |
Clinically normal maternal grandmother of monozygotic twins (GM22227 and GM22256) affected with Niemann-Pick C1 disease; donor subject has a 1 bp deletion in exon 12 of the NPC1 gene (1920delG); see lymphoblast GM22568 from same subject as GM23945. |
| Gupta A, Rivera-Molina F, Xi Z, Toomre D, Schepartz A, Endosome motility defects revealed at super-resolution in live cells using HIDE probes Nature chemical biology: 2019 |
| PubMed ID: 32094922 |
| Cumulative PDL at Freeze |
5.28 |
| Passage Frozen |
2 |
| Split Ratio |
1:8 |
| 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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