GM07693
Fibroblast from Placental, Placenta
Description:
TRANSLOCATED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities DGAP dbGaP |
Biopsy Source
|
Placenta
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Placental
|
Transformant
|
Untransformed
|
Sample Source
|
Fibroblast from Placental, Placenta
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,X,t(X;10)(p11.2;q24.3).arr(1-22,X)x2
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
4 |
|
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 10: TRANSLOCATION Breakpoint 10q24 t(X;10)10q24 |
|
Chromosome X: TRANSLOCATION Breakpoint Xp11 t(X;10)Xp11 |
Remarks |
Placenta biopsy; loose skin, scoliosis, small thorax, scaphoid abdomen, hypoplastic labia, right clinodactyly and camptodactyly, thenar hypoplasia, left camptodactyly, diaphragm hernia, pulmonary hypoplasia, bicornuate uterus, and absent right olfactory lobe |
Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
PubMed ID: 23665875 |
|
Carrel L, Willard HF, Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci U S A96:7364-9 1999 |
PubMed ID: 10377420 |
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 |
- |
|
|