GM24308
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
|
ENGLISH/FRENCH/FINNISH/SWEDISH
|
Country of Origin
|
USA
|
Family Member
|
1
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
46,XX,del(17)(p11.2).arr[hg19]17p11.2(17036268-19783974)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
6.98 |
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 32; dysmorphic facial features; facial asymmetry; hemangioma; dental abnormalities; brachydactyly; pes planus; scoliosis; spina bifida occulta; dry skin; connective tissue nevi; cerebellar hypoplasia; strabismus; hearing defect; hypotonia; absent reflexes; decreased pain sensitivity; hoarse voice; laryngeomalacia; vascular compression (innominate artery); schwannoma spine tumor; ovarian tumors; constipation; gastroesophageal reflux; bicornuate uterus; elevated blood urea nitrogen; high cholesterol; short stature; failure to thrive; gross motor delay; speech delay; overweight/obese; autism (tested at age 3); autism spectrum disorder; pervasive developmental disorder; intellectual disability- IQ 94/ DQ69; oppositional defiant disorder; sleep disturbance; repetitive behaviors; self-injurious behaviors; anxiety disorder; mood disorder; disruptive behavior disorder; procedures include: bilateral myringotomy tubes; total hysterectomy; open chest 5x for vascular compression; medications include: Prozac, triamterene, glucophage, shark oil, prazosin; see GM23786 (Lymph); unaffected mother is GM24271 (Lymph). |
Cumulative PDL at Freeze |
12.15 |
Passage Frozen |
3 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
3% |
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 |
Supplement |
- |
|
|