Description:
SMITH-MAGENIS SYNDROME; SMS
RETINOIC ACID-INDUCED GENE 1; RAI1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| 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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East Indian
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Ethnicity
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PAKISTANI/AFGHANI/PERSIAN/PORTUGUESE/GERMAN
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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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Molecular characterization before cell line submission to CCR
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ISCN
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46,XX.ish 17p11.2(LIS1,FLI1)x2
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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 |
RAI1 |
| Chromosomal Location |
17p11.2 |
| Allelic Variant 1 |
A75S; SMITH-MAGENIS SYNDROME |
| Identified Mutation |
ALA75SER |
| Remarks |
Clinically affected; low set angular ears; upslanting eyes; hypertelorism seizures; frequent ear and respiratory infections; constipation; speech delay; intellectual disability; sleep disturbance; repetitive behaviors; delayed toilet training; donor subject has a G>T change at nucleotide 223 of the RAI1 gene resulting in the substitution of serine for alanine at codon 75 [Ala75Ser (A75S)]; mother is GM22767. |
| 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 |
| View |
FISH Texas Red detects LIS1(17p13.3), FITC detects (FLI1),DAPI counterstain |
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FISH Texas Red detects LIS1(17p13.3), FITC detects (FLI1),DAPI counterstain |
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