Description:
TURNER SYNDROME
CHROMOSOME DELETION
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,X,del(Y)(pter>q11.2:)[77]/45,X[33]
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
4 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Cytogenetics |
Chromosome Y: DELETION Aneuploid Segment (-)Yq11>Yqter |
Remarks |
Male pseudohermaphrodite; several of Turner syndrome stigmata; mixed gonadal dysgenesis; 33% of cells are 45,X |
Tyler-Smith C, Oakey RJ, Larin Z, Fisher RB, Crocker M, Affara NA, Ferguson-Smith MA, Muenke M, Zuffardi O, Jobling MA, Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes. Nat Genet5:368-75 1993 |
PubMed ID: 8298645 |
Passage Frozen |
4 |
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 |
- |
|
|