AG05324
Fibroblast from Skin, Unspecified
Description:
COCKAYNE SYNDROME TYPE UNSPECIFIED
|
Repository
|
NIA Aging Cell Culture Repository
|
| Subcollection |
Heritable Diseases |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XY
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Remarks |
Clinically affected; birth weight 3780 g and head circumference 32 cm; at 4 years and eight months weight was 6.5 kg, height was 76 cm, head circumference was 41 cm; congenital cataracts; cryptorchidism; scooting around floor at 4 months of age but later milestones markedly delayed; no language at age 4 but could understand simple commands; scanty gray hair; misaligned and carious teeth; prominent ears; significant hypogonadism; thin extremities with marked muscle atrophy; thoracic kyphosis; pectus excavatum; wandering nystagmoid eye movements; short stature; spastic tone and flexion contractures in all extremities; deep tendon reflexes symmetrically brisk and equal; minimal great toe extension with plantar stimulation; poor strength; seizures developed about age 5-6; subject died at age 6; affected older sister died at age 6; mother is AG05326; father is AG05322; EEG showed a slow background rhythm, persistent low-amplitude delta activity over the right hemisphere, frequent paroxysmal runs of bilateral high-amplitude theta and delta activity, and occasional bisynchronous sharp transients; skull x-ray showed small cranium and markedly thickened cranial vault; spine x-ray showed diffuse osteoporosis, moderate kyphosis, and slight low thoracic scoliosis; brain stem auditory evoked response at age 4 was "nondiagnostic on the right but would tend to suggest normal conduction through the central auditory pathways on the left"; CT scan of brain at age 4 showed "rather marked atrophy over the convexities as well as atrophy of the brain stem and posterior fossa for age with basal ganglionic calcification" and changes considered consistent with diagnosis of Cockayne's syndrome; dose-response experiments showed a marked hypersensitivity to 254-nm UV; see AG05325 lymphoid |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
|