GM24300
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
|
Asian, Other
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
CHINESE
|
Country of Origin
|
USA
|
Family Member
|
1
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
46,XY,del(17)(p11.2p11.2).arr[hg19] 17p11.2(16735531-20433857)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Clinically affected; diagnosis at age 11 years; symptom onset noticed at 1.5 years of age; birth history unknown-donor subject was adopted; strabismus; dental abnormalities; scoliosis; hypospadias; history of ear infections; hearing defect-left ear mildly impaired; hypotonia; decreased pain sensitivity; resolved hypothyroidism in infancy with recurring onset at puberty; constipation; fine motor delay; gross motor delay; speech delay; intellectual disability; sleep disturbance; repetitive behaviors; history of self-injurious behaviors; see also GM24314 (Fibro). |
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 |
- |
|
|