GM25503
Fibroblast from Skin, Skin
Description:
MICROCEPHALY WITH CHORIORETINOPATHY
TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 6; TUBGCP6
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
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
|
Mennonite
|
|
Country of Origin
|
USA
|
|
Family Member
|
3
|
|
Family History
|
Y
|
|
Relation to Proband
|
brother
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
9.69 |
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
TUBGCP6 |
| Chromosomal Location |
22q13.33 |
| Allelic Variant 1 |
p.Ter1820Gly; MICROCEPHALY WITH CHORIORETINOPATHY |
| Identified Mutation |
c.5458T>G |
| |
| Gene |
TUBGCP6 |
| Chromosomal Location |
22q13.33 |
| Allelic Variant 2 |
p.Ter1820Gly; MICROCEPHALY WITH CHORIORETINOPATHY |
| Identified Mutation |
c.5458T>G |
| Remarks |
Clinically affected; microcephaly; global developmental delay; diagnosed with retinal dysplasia L>R at 2 weeks of age by pediatric ophthalmologist; several punched out lesions observed in superior and inferior arcades in the range of 20-30; optic nerves appeared relatively intact- slightly better in left eye than in right; age in months/occipital frontal circumference (OFC in cm): 25.5/38, 35.5/39, 45.5/42, 51.5/42, 62.5/40; homozygous mutation TUBGCP6 c.5458T>G (p.Ter1820Gly); affected sister (GM25502, fibroblast); unaffected carrier father (GM25504, fibroblast). |
| Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA, Genetic mapping and exome sequencing identify variants associated with five novel diseases PloS one7:e28936 2011 |
| PubMed ID: 22279524 |
| Cumulative PDL at Freeze |
9.69 |
| 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 |
- |
|