GM24204
LCL from B-Lymphocyte
Description:
SMITH-MAGENIS SYNDROME; SMS
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Ethnicity
|
Irish
|
Country of Origin
|
USA
|
Family Member
|
1
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
ISCN
|
46,XX,del(17)(p12p11.2).arr[hg19] 17p12p11.2(15734575-20501612)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Clinically affected; symptom onset at birth; diagnosis at age 6 months; dysmorphic facial features; mid-face hypoplasia; high arched palate; dental abnormalities; brachycephaly; laryngeal anomalies; tracheal/laryngeal malaysia; hoarse, deep voice; brachydactyly; pes planus; scoliosis; short stature; decreased pain sensitivity; ataxia; peripheral neuropathy; hypotonia; seizures; cardiovascular anomalies; renal anomalies; constipation; gastroesphageal reflux; failure to thrive; velopharyngeal insufficiency; mental retardation; absent or sparse speech; fine motor delay; gross motor delay; maladaptive behaviors; oppositional defiant disorder; obsessive compulsive disorder; self-injurious behavior; anxiety disorder; disruptive behavior disorder; sleep disturbances; inverted circadian rhythm causing severe sleep disorder; unaffected mother is GM24299(lymph). |
Elsea SH, Williams SR, Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways Expert reviews in molecular medicine13:e14 2011 |
PubMed ID: 21545756 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
|
|