Description:
POTOCKI-LUPSKI SYNDROME; PTLS
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Chromosome Abnormalities PIGI Consented Sample |
Cell Type
|
Fibroblast
|
Tissue Type
|
Squamous epithelium
|
Transformant
|
Untransformed
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Country of Origin
|
USA
|
Family Member
|
1
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
46,XY[25].arr[hg19] 17p11.2(16,709,534-20,307,047)x3
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
7.74 |
Passage Frozen |
2 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Fibroblast established from tissue biopsy of esophagus; clinically affected; diagnosed at 6 years of age by a geneticist; onset of symptoms at birth; autism; hypotonia; hypersensitivity; renal cysts; scoliosis; feeding issues (has G tube); ADHD; anxiety; patent foramen ovale (PFO); migraines; cytogenetic testing by CGH array; treatment includes: physical and occupational therapy and speech language therapy; assistive devices: wheelchair, orthotics; medications include: Zoloft, Intuniv, Singulair, melatonin: Elavil; surgeries for: tear ducts, lazy eye, enlarged urethral opening, pull down testes, G tube, multiple biopsies; lymphoblast is GM25929; mother lymph is GM25931 and fibro is GM25932; father lymph is GM25933. |
Cumulative PDL at Freeze |
7.74 |
Passage Frozen |
2 |
Split Ratio |
1:6 |
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 |
Substrate |
Gelatin |
Supplement |
- |
|
|