Description:
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,XX,del(1)(pter>q25::q32>qter)
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
4 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Cytogenetics |
Chromosome 1: DELETION Aneuploid Segment (-)1q25>1q32 |
Remarks |
Partial monosomy chromosome 1; polysplenism; cephalohematoma |
Palmer CG, Christian JC, Merritt AD, Partial trisomy 1 due to a "shift" and probable location of the Duffy (Fy) locus. Am J Hum Genet29:371-7 1977 |
PubMed ID: 879169 |
|
Pan SF, Fatora SR, Sorg R, Garver KL, Steele MW, Meiotic consequences of an intrachromosomal insertion of chromosome No 1: a family pedigree. Clin Genet12:303-13 1977 |
PubMed ID: 589852 |
|
Garver kl, Ciocco AM, Turack NA, Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1. Clin Genet10:319-324 1976 |
PubMed ID: 991441 |
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 |
- |
|
|