Description:
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Ethnicity
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HISPANIC
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Country of Origin
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USA
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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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]
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| 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 2022 |
| 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 |
- |
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