Description:
CHROMOSOME DELETION
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Family Member
|
3
|
Relation to Proband
|
mother
|
Confirmation
|
Karyotypic analysis and In situ hybridization
|
ISCN
|
47,XX,del(17)(pter>p11.2::p10>qter),+der(17)(:p11.2>q10:)[41]/ 46,XX,del(17)(pter>p11.2::p10>qter)[9].ish del(17)(D17Z1+),der(17)(D17Z1+)
|
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 Chromosomal Analysis |
|
Cytogenetics |
Chromosome 17: DELETION Aneuploid Segment (-)17p11>17p10 |
Remarks |
Clinically normal; see GM08145 Lymphoid; 88% of peripheral blood lymphocytes had a 17p- marker chromosome; 82% of fibroblasts have the del(17)(:p11.2>cen:) |
Huynh C, Roth D, Ward DM, Kaplan J, Andrews NW, Defective lysosomal exocytosis and plasma membrane repair in Chediak-Higashi/beige cells. Proc Natl Acad Sci U S A101(48):16795-800 2004 |
PubMed ID: 15557559 |
|
Rudd MK, Mays RW, Schwartz S, Willard HF, Human artificial chromosomes with alpha satellite-based de novo centromeres show increased frequency of nondisjunction and anaphase lag. Mol Cell Biol23(21):7689-97 2003 |
PubMed ID: 14560014 |
|
Wevrick R, Earnshaw WC, Howard-Peebles PN, Willard HF, Partial deletion of alpha satellite DNA associated with reduced amounts of the centromere protein CENP-B in a mitotically stable human chromosome rearrangement. Mol Cell Biol10:6374-80 1990 |
PubMed ID: 2247061 |
|
Howard-Peebles, A stable supernumary chromosome derived from a deleted segment of 17p. Am J Hum Genet37:A97 (1985):6374-80 1985 |
PubMed ID: 2247061 |
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 |
- |
|
|