GM25445
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
PIGI Consented Sample |
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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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Asian
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Chinese
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Country of Origin
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USA
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Family Member
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4
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Family History
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Y
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Relation to Proband
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brother
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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 |
5.82 |
| 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 |
P1080IfsX18; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
PRO1080ILEfsX18 |
| Remarks |
Unaffected carrier; sequence analysis results revealed that subject is heterozygous for an NPC1 frameshift variant c.3234_3237dupATTT that the father (GM25442) carries; negative for the NPC1 nonsense variant c.2213C>A (p.Ser738*) that the mother (GM25443) carries; family history: has clinically affected sister (GM25439) who is a compound heterozygote and has both the c.2213C>A and c.3234_3237dupATTT variants; father, mother and another sister (GM25438) are NPC1 mutation carriers; repository family number 3221. |
| Willett R, Martina JA, Zewe JP, Wills R, Hammond GRV, Puertollano R, TFEB regulates lysosomal positioning by modulating TMEM55B expression and JIP4 recruitment to lysosomes Nature communications8:1580 2017 |
| PubMed ID: 29146937 |
| Cumulative PDL at Freeze |
5.82 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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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