NA25439
DNA from Fibroblast
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from Fibroblast
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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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1
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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ISCN
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46,XX[18]
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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 |
6.05 |
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 1 |
p.Ser738*; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
SER738* |
| |
| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 1 |
P1080IfsX18; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
PRO1080ILEfsX18 |
| |
| Gene |
TREX1 |
| Chromosomal Location |
3p21.31 |
| Allelic Variant 1 |
p.P118R; AICARDI-GOUTIERES SYNDROME 1; AGS1 |
| Identified Mutation |
PRO118ARG |
| Remarks |
Clinically affected; onset of symptoms at birth; birth weight: 2 lbs, 14 oz; birth length: 14.5 inches; jaundice (indirect and direct); pulmonary disease within 2 months of birth requiring tracheal tube; hepatosplenomegaly; mild febrile seizures (occurred twice); language significantly below age level; cognitive ability moderately to severely impaired; feeding issues- not eating by mouth at all; G-tube placed at 11 months of age; exome sequencing (hg19 build) revealed compound heterozygous variants in the NPC1 gene: maternally inherited nonsense variant c.2213C>A (p.Ser738*) and paternally inherited frameshift variant c.3234_3237_dupATTT (p.Pro1080IlefsX18); the genomic positions (hg 19) of these variants are 18:21123451 and 18:21116644, respectively; an additional de novo heterozygous variant with uncertain clinical significance was found in TREX1 (3-prime repair exonuclease) gene (VUS): c.353C>G; variants in TREX1 are associated with autosomal dominant and autosomal recessive Aicardi-Goutieres Syndrome 1; occupational therapy; medications used for pulmonary and GI issues; diet consists of Vivonex pediatric formula; family history: father (GM25442), mother (GM25443), brother (GM25445), and sister (GM25438) are NPC1 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 |
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