Description:
CHROMOSOME DELETION
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities dbGaP |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Ethnicity
|
HISPANIC
|
Country of Origin
|
USA
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX,del(1)(pter>q43:)[15]/46,idem,add(13)(:p13->qter)[4]/92,XXXX,del(1)(pter>q43:)x2[3]/92,XXXX,del(1)(pter>q43:)x2,add(13)(:p13->qter)x2[1]
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
2.42 |
Passage Frozen |
2 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Cytogenetics |
Chromosome 1: DELETION Aneuploid Segment (-)1q42>1qter |
Remarks |
67% of control human acid B-glucosidase (GBA) activity; somatic cell hybrids with a single del(1) were negative for GBA by both immunoprecipitation and natural substrate enzyme assays |
Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
PubMed ID: 35039224 |
|
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 |
|
Devine EA, Smith M, Arredondo-Vega FX, Shafit-Zagardo B, Desnick RJ, Regional assignment of the structural gene for human acid beta- glucosidase to q42 leads to qter on chromosome 1. Cytogenet Cell Genet33:340-4 1982 |
PubMed ID: 6816512 |
Passage Frozen |
2 |
Split Ratio |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
3% |
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 |
Commercially-treated plastic |
Supplement |
- |
|
|