GM07893
Fibroblast from Skin, Unspecified
Description:
TRANSLOCATED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
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
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XY,der(6)(6qter>6p25::4q31.3>4qter)mat
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
3 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
|
Cytogenetics |
Chromosome 4: DERIVATIVE CHROMOSOME Aneuploid Segment (+)4q31>4qter |
|
Chromosome 4: DERIVATIVE CHROMOSOME Trisomic Segment 4q31>4qter |
|
Chromosome 6: DERIVATIVE CHROMOSOME Aneuploid Segment (-)6pter>6p25 |
Remarks |
Skin fibroblast culture; wide set eyes; low set posteriorly rotated ears; overriding lip; spade-like hands; short neck with webbing; fused palpebral fissures; same patient as GM07901 |
Passage Frozen |
3 |
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 |
15% fetal bovine serum Not inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
|
|