GM24302
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
|
Country of Origin
|
USA
|
Family Member
|
1
|
Family History
|
N
|
Relation to Proband
|
proband
|
ISCN
|
46,XY,del(17)(p11.2p11.2).arr[hg19] 17p11.2(16735531-20373037)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 1 year of age; diagnosis at 2 years of age; birthweight: 6 lbs; mother had poor weight gain during pregnancy; dysmorphic facial features; dental abnormalities; long fingers/limbs (marfanoid habitus); contractures; pes planus; scoliosis; pectus excavatum; defective vision; strabismus; hypotonia; seizures; ear infections that led to myringotomy tubes; atrial septal defect X2; failure to thrive; fine motor delay; gross motor delay; speech delay; lean body habitus; intellectual disability; ADHD; sleep disturbance; self-injurious behaviors; unaffected mother is GM24301 (Lymph). |
Yang Z, Yang X, Sun Y, Wang Y, Song L, Qiao Z, Fang Z, Wang Z, Liu L, Chen Y, Yan S, Guo X, Zhang J, Fan C, Liu F, Peng Z, Peng H, Sun J, Chen W, Test development, optimization and validation of a WGS pipeline for genetic disorders BMC medical genomics16:74 2022 |
PubMed ID: 37020281 |
Split Ratio |
1:5 |
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 |
- |
|
|