GM16027
Fibroblast from Skin, Skin
Description:
TRANSLOCATED CHROMOSOME
DERIVATIVE CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Biopsy Source
|
Skin
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Sample Source
|
Fibroblast from Skin, Skin
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX,der(15)(15qter>15p11.1::7q11.2>7qter).ish der(15)(D7Z1-,D15Z+)
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Remarks |
Severe hydrocephalus; severe contractures and clubbing of hands and feet; deformity of both hands (left hand missing digits, right hand contorted); bilateral bowing of femurs and tibias; bilateral hip dislocation; low set ears; micrognathia; hypertelorism; abnormal genitalia; heart abnormalities; pulmonary hypoplasia |
Passage Frozen |
6 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Amniotic Fluid Culture Medium |
Serum |
15% fetal bovine serum Not inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
|
|