GM24357
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/FRENCH/SWEDISH/ENGLISH
|
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,XX,del(17)(p11.2p11.2).arr[hg19] 17p11.2(16769800-20395875)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; diagnosed at age 12 years, symptom onset at birth; prenatal history: decreased fetal movements; strabismus; decreased pain sensitivity; dental abnormalities; hoarse voice; dry skin; leg anomaly; scoliosis; VSD; constipation; gastroesophageal reflux; fine motor delay; gross motor delay; short stature; speech delay; overweight/obesity; autism spectrum disorder (ASD); learning disability; intellectual disability; ADHD; oppositional defiant disorder; obsessive compulsive disorder; sleep disturbance; repetitive behaviors; self-injurious behaviors; anxiety disorder; mood disorder; disruptive behavior disorder; parents are GM24274 and GM24276. |
Split Ratio |
1:4 |
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 |
- |
|
|