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 |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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ITALIAN/PORTUGUESE/ENGLISH/SCOTTISH/IRISH
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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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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| 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 |
607623.0020; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
ARG978CYS |
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| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 2 |
; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
IVS21-2A>G |
| Remarks |
Clinically affected; diagnosed at age 10 1/2 years; neonatal jaundice; yellow sclerae for five days; enlarged spleen detected at age 5 years; clumsiness at age 7 years; learning difficulties beginning at age 8 years; ataxia observed at age 7-8 years; vertical gaze palsy observed at age 10 years; dysarthria observed at age 10 years; dysphagia detected at age 10 years; mild coughing when eating; mild cataplexy controlled by methylphenidate; affected sister is GM22229; donor subject is a compound heterozygote: one allele has an intronic mutation (IVS21-2A>G); the second allele has a C>T change at nucleotide 2932 in exon 20 of the NPC1 gene (2932C>T) resulting in the substitution of cysteine for arginine at codon 978 [Arg978Cys (R978C)] |
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