GM20742
LCL from B-Lymphocyte
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 |
| Class |
Disorders of Uncertain Biochemical Etiology |
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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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LCL from B-Lymphocyte
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Race
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White
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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,XY.ish 17p11.2(LIS1x2),17p13.3(FLIx2)
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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 |
607642.0003; SMITH-MAGENIS SYNDROME |
| Identified Mutation |
2773del29 |
| Remarks |
Clinically affected; brachycephaly; prognathism; tented upper lip; broad square face; hoarse deep voice; mental retardation; speech delay; sleep disturbance; self hugging; onychotillomania; polyembolokoilomania; head banging/face slapping; hand biting; attention seeking; myopia; strabismus; synophrys; scoliosis; no deletion detected in cell line by FISH analysis; donor subject has a 29 bp deletion at nucleotide 2773 of the RAI1 gene (2773del29) |
| Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH, Mutations in RAI1 associated with Smith-Magenis syndrome Nature genetics33:466-8 2003 |
| PubMed ID: 12652298 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
fetal bovine serum Not Inactivated |
| Supplement |
- |
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