GM25350
Fibroblast from Skin, Skin
Description:
SMITH-MAGENIS SYNDROME; SMS
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Biopsy Source
|
Skin
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Sample Source
|
Fibroblast from Skin, Skin
|
Race
|
More than one race
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
African American/Caucasian
|
Country of Origin
|
USA
|
Family Member
|
1
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis and Case history
|
ISCN
|
46,XY,del(17)(p11.2).arr[hg19]17p11.2(16928298-18465209)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
6.52 |
Passage Frozen |
2 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Clinically affected; diagnosed at age 10 via FISH test; brachycephaly; dental abnormalities; broad nasal bridge; down-turned upper lip; prognathism; synophyrs; pes planus; syndactyly; hoarse voice; decreased pain sensitivity; cardiac abnormalities include ASD and VSD; hypothyroidism diagnosed at 11 months old; GERD diagnosed at 11 months old and 10 years old; constipation; failure to thrive; short stature; overweight/obesity; sleep apnea; otitis media; RSV; intellectual disability (62 IQ/DQ); self-injurious behaviors; attention deficit disorder; unaffected mother is GM25351 and unaffected father is GM25352. |
Cumulative PDL at Freeze |
6.52 |
Passage Frozen |
2 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not inactivated |
Supplement |
- |
|
|