Description:
INVERTED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
Black/African American
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XY,rec(3)(qter>p25:q25>qter)
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
3 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Remarks |
Parents are GM01250 and GM01252 Fibroblast; maternal half-brother is GM01251 Fibroblast; multiple congenital anomalies, patent urachus, malrotation of midgut with annular pancreas, heart murmur, cryptorchidism, and bilateral extra digit |
Pope IS, Thuline HC, Aronson MM, Bozarth B, Greene AE, Coriell LL, Duplication of a segment of chromosome 3 in a subject with multiple congenital anomalies and a 47,XYY father, inversion of chromosomes 3 and 9 in the mother, and inversion of chromosome 9 in a brother. Repository identification Nos. GM-1253, GM-1252, and GM-1251. Cytogenet Cell Genet24:127-8 1979 |
PubMed ID: 477407 |
Passage Frozen |
3 |
Split Ratio |
1:3 |
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 |
- |
|
|