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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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,XY,del(1)(q23q25).arr 1q23.3q25.2(159256504-176275096)x1
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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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| Passage Frozen |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 1: DELETION Aneuploid Segment (-)1q21>1q25 |
| Remarks |
Microcephaly; low set ears; small eyes; high arched palate with bifid uvula; abdominal hernia; dislocated hip; hypotonia; bilateral small kidneys; parents both have normal karyotypes |
| 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 |
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| Lebo RV, Chance PF, Dyck PJ, Redila-Flores MT, Lynch ED, Golbus MS, Bird TD, King MC, Anderson LA, Hall J, et al, Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region [published erratum appears in Hum Genet 1993 Apr;91(3):301] Hum Genet88:1-12 1991 |
| PubMed ID: 1683643 |
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| Lebo RV, Anderson LA, Lau YF, Flandermeyer R, Kan YW, Flow-sorting analysis of normal and abnormal human genomes. Cold Spring Harb Symp Quant Biol51 Pt 1:169-76 1986 |
| PubMed ID: 3472713 |
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| Bock SC, Harris JF, Balazs I, Trent JM, Assignment of the human antithrombin III structural gene to chromosome 1q23-25. Cytogenet Cell Genet39:67-9 1985 |
| PubMed ID: 3979120 |
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| Taysi K, Sekhon GS, Hillman RE, A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21-23 leads to 1q25. Am J Med Genet13:423-30 1982 |
| PubMed ID: 7158642 |
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| Sekhon GS, Hillman RE, Yu R, Aronson MM, Greene AE, Coriell LL, Deletion in the long arm of chromosome 1 from a subject with multiple congenital anomalies. Respository identification No. GM-2025. Cytogenet Cell Genet21:176 1978 |
| PubMed ID: 657850 |
| 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 |
- |
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