GM24303
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
|
Russian/Polish/Norwegian/German
|
Country of Origin
|
USA
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis and In situ hybridization
|
ISCN
|
46,XX,del(17)(p11.2).arr[hg19] 17p11.2(16740269-20370499)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 age 6 months; diagnosis at age 12 years; dysmorphic facial features; brachycephaly; midface hypoplasia; dental abnormalities; velopharyngeal insufficiency; hoarse voice; dry skin on feet; brachydactyly; pes planus; strabismus; hypotonia; decreased pain sensitivity; myringotomy tubes; benign heart murmur, resolved; frequent urinary tract infections; fine motor delay; gross motor delay; speech delay; obese; intellectual disability; self-hugging behavior. |
Split Ratio |
1:2 |
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 |
- |
|
|