GM24286
LCL from B-Lymphocyte
Description:
SMITH-MAGENIS SYNDROME; SMS
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities PIGI Consented Sample |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
IRISH/SWEDISH/NORWEGIAN
|
Country of Origin
|
USA
|
Family Member
|
1
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis before cell line submission to CCR
|
ISCN
|
46,XY,del(17)(p11.2p11.2).arr[hg19] 17p11.2(16763554-20466469)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Subject is clinically affected, premature birth (6 weeks) with decreased fetal movement; ventriculomegaly; neurological clinical findings include: absent or sparse speech, strabismus, hearing defect, hypotonia and decreased pain sensitivity; dysmorphic facial features; dental abnormalities, high palate; brachydactyly; pes planus; scoliosis; history of pneumonia ages 2-9 with hospitalization due to low tone reduced peristalsis and aspiration; constipation; gastroesophageal reflux; eneurisis; failure to thrive; fine motor delay; gross motor delay; short stature; speech delay; ASD; learning disability; IQ 50; ADHD; oppositional defiant disorder; OCD; sleep disturbance; repetitive behaviors; self-injurious behaviors; anxiety disorder and disruptive behavior disorder; enlarged heart noted during echocardiogram and x-rays; diagnosis confirmed by FISH. See GM24313 (Fibro); Mother is GM24287 (Lymph). |
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 |
- |
|
|