Description:
PRADER-WILLI SYNDROME; PWS
SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
dbGaP |
| Class |
Other Disorders of Known Biochemistry |
| 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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Family Member
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1
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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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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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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
SNRPN |
| Chromosomal Location |
15q12 |
| Allelic Variant 1 |
; PRADER-WILLI SYNDROME |
| Identified Mutation |
DEL PATERNAL EXON ALPHA |
| Remarks |
Typical features of PWS; negative family history; has paternal deletion of exon alpha of SNRPN which occurs within a differentially methylated CpG island and causes altered methylation and loss of paternal expression over hundreds of kb; same subject as GM12134 (sampled at age 15 years) |
| Bækgaard CH, Lester EB, Møller-Larsen S, Lauridsen MF, Larsen MJ, NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long-read sequencing Annals of human genetics: 2024 |
| PubMed ID: 38690755 |
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| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL, Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region [see comments] Nat Genet8:52-8 1994 |
| PubMed ID: 7987392 |
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| Pettigrew AL, Gollin SM, Greenberg F, Riccardi VM, Ledbetter DH, Duplication of proximal 15q as a cause of Prader-Willi syndrome. Am J Med Genet28:791-802 1987 |
| PubMed ID: 3688017 |
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