GM24313
Fibroblast from Skin, Skin
Description:
SMITH-MAGENIS SYNDROME; SMS
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities PIGI Consented Sample |
Biopsy Source
|
Skin
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Sample Source
|
Fibroblast from Skin, Skin
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
IRISH/SWEDISH/NORWEGIAN
|
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,XY,del(17)(p11.2p11.2).arr[hg19] 17p11.2(16740269-20457488)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
5.87 |
Passage Frozen |
3 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Clinically affected, symptom onset at birth; diagnosed at age 25; premature birth (6 weeks) with decreased fetal movement in utero; dysmorphic facial features; dental abnormalities, high palate; brachydactyly; pes planus; scoliosis; short stature; ventriculomegaly; defective vision, strabismus, hearing defect, hypotonia and decreased pain sensitivity; history of pneumonia ages 2-9 with hospitalization due to low tone, reduced peristalsis, and aspiration, left lower lobe and middle lobe removed; constipation; gastroesophageal reflux; enuresis; failure to thrive; enlarged heart noted during echocardiogram and x-rays; fine motor delay; gross motor delay; absent or sparse speech; autism spectrum disorder; learning disability-IQ 50; ADHD; oppositional defiant disorder; obsessive compulsive disorder; sleep disturbance; repetitive behaviors; self-injurious behaviors; anxiety disorder; disruptive behavior disorder; see GM24286 (Lymph); unaffected mother is GM24287 (Lymph). |
Cumulative PDL at Freeze |
5.87 |
Passage Frozen |
3 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not inactivated |
Substrate |
None specified |
Supplement |
- |
|
|