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GM02626 Fibroblast

Description:

XX MALE SYNDROME
DERIVATIVE CHROMOSOME
TRANSLOCATED CHROMOSOME

Affected:

Yes

Sex:

Male

Age:

23 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
dbGaP
Class Gonadal Dysgenesis
Cell Type Fibroblast
Transformant Untransformed
Race White
Family Member 4
Relation to Proband second cousin
Confirmation Molecular characterization after cell line submission to CCR
ISCN 46,XX
Species Homo sapiens
Common Name Human
Remarks 46,XX; bilateral mild gynecomastia; average IQ; phenotypically male; DNA from fibroblasts hybridizes Y-chromosome-specific DNA probes mapping near to the putative testis determining locus

Characterizations

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PDL at Freeze 5.9
Passage Frozen 4
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME Numabe et al (Hum Genet 90:211-214,1992) analyzed the DNA from this XX male cell culture with 17 different Y chromosome-derived DNA probes using Southern blot hybridization analysis and by the polymerase chain reaction for an additional 2 sites on the short arm of Y (PABY & SRY). A total of 25 loci were tested and yielded the following results: PABY +, SRY +, ZFY +, DXYS5 +, DXYS73Y +, DYF27B -, DYF27C -, DYS131B -, DYS7A/B -, DYS130 -, AMGL -, DYS7D -, DYS11 -, DYS140 -, DYS139 -, DYS133 -, DYS134 -, DYS132 -, DYS135 -, DYF27A -, DYS131A -, DYS7E -, DYS7C -, DYS1 -, & DYZ1 -. These findings confirmed those previously reported by Nakahori et al (Genomics 9:765-769,1991).
 
TESTIS DETERMINING LOCUS Muller et. al. (Nucleic Acids Res.14:6489,1986) reported that DNA from these fibroblasts hybridized Y-chromosome-specific DNA probes mapping near to the putative testis determining locus. Muller et al (Genomics 5:153-156,1989) investigated the Y-chromosomal DNA content of the DNA from this 46,XX male cell culture utilizing a number of Y-specific DNA probes. DNA from this culture hybridized some but not all of the probes. No hybridization was observed for probes Y-156, Y-190, and Y-223a which are specific for a proximal region of Yp containing a cluster of Y-specific moderately repeated DNA sequences.
 

Phenotypic Data

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Remarks 46,XX; bilateral mild gynecomastia; average IQ; phenotypically male; DNA from fibroblasts hybridizes Y-chromosome-specific DNA probes mapping near to the putative testis determining locus

Publications

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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
 
Numabe H, Nagafuchi S, Nakahori Y, Tamura T, Kiuchi H, Namiki M, Kohda N, Fukushima Y, Fuse H, Kusano M, et al, DNA analyses of XX and XX-hypospadiac males. Hum Genet90:211-4 1992
PubMed ID: 1487232
 
Nakahori Y, Tamura T, Nagafuchi S, Fujieda K, Minowada S, Fukutani K, Fuse H, Hayashi K, Kuroki Y, Fukushima Y, et al, Molecular cloning and mapping of 10 new probes on the human Y chromosome. Genomics9:765-9 1991
PubMed ID: 2037302
 
Muller U, Lalande M, Donlon TA, Heartlein MW, Breakage of the human Y-chromosome short arm between two blocks of tandemly repeated DNA sequences. Genomics5:153-6 1989
PubMed ID: 2548948
 
Muller U, Donlon T, Schmid M, Fitch N, Richer CL, Lalande M, Latt SA, Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,XY and 46,X,dic(Y) females. Nucleic Acids Res14:6489-505 1986
PubMed ID: 3748818
 
Page DC, de la Chapelle A, Weissenbach J, Chromosome Y-specific DNA in related human XX males. Nature315:224-6 1985
PubMed ID: 2987697
 
Page DC, de la Chapelle A, The parental origin of X chromosomes in XX males determined using restriction fragment length polymorphisms. Am J Hum Genet36:565-75 1984
PubMed ID: 6328977
 
Daiger SP, Wildin RS, Su TS, Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase. Nature298:682-4 1982
PubMed ID: 7099264
 
Chapelle AD, Schroder J, Murros J, Tallqvist G, Two XX males in one family and additional observations bearing on the etiology of XX males. Clin Genet11:91-106 1977
PubMed ID: 837567

External Links

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dbSNP dbSNP ID: 17374
NCBI GTR 278850 46,XX SEX REVERSAL 2; SRXX2
OMIM 278850 46,XX SEX REVERSAL 2; SRXX2
Omim Description XX MALE SYNDROME

Culture Protocols

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Cumulative PDL at Freeze 5.9
Passage Frozen 4
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Supplement -
Pricing
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$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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