GM24527
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
|
IRISH/SCOTTISH
|
Country of Origin
|
USA
|
Family Member
|
1
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
46,XX,del(17)(p11.2p11.2).arr[hg19] 1q31.3(196738610-196847963)x1,15q11.1q11.2(20284053-22681064)x1,17p11.2(16740269-20431257)x1,21q22.3(47213930-47489546)x3
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Clinically affected; decreased fetal movements; premature delivery at 35 weeks; absent or sparse speech; defective vision; pupil abnormality; facial asymmetry; seizures; decreased pain sensitivity; dry skin; brachydactyly; scoliosis; failure to thrive; fine motor delay; short stature; overweight/obese; sleep disturbance; repetitive behaviors; self-injurious behaviors; disruptive behavior disorder; unaffected mother is GM24538 (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 |
- |
|
|