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GM00097 Fibroblast

Description:

SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1
TRANSLOCATED CHROMOSOME

Affected:

Yes

Sex:

Female

Age:

1 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
Class Disorders of Connective Tissue, Muscle, and Bone
Cell Type Fibroblast
Transformant Untransformed
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,X,t(X;1)(Xpter>Xq26::1q21>1qter; 1pter>1q21::Xq26>Xqter),inv(7)(pter> q11.2::q22>qter)
Species Homo sapiens
Common Name Human
Remarks De novo 46,X,t(X;1)(Xpter>Xq26::1q21> 1qter;1pter>1q21::Xq26>Xqter),inv(7) (pter>q11.2::q22>qter); norm X is late replicating; elevated birth weight and length; diaphragmatic hernia

Characterizations

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Passage Frozen 9
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis
 
Cytogenetics Chromosome 1: TRANSLOCATION Breakpoint 1q21 t(X;1)1q21
Chromosome 7: INVERSION Breakpoint 7q11 inv(7)7q11
Chromosome 7: INVERSION Breakpoint 7q22 inv(7)7q22
Chromosome X: TRANSLOCATION Breakpoint Xq26 t(X;1)Xq26

Phenotypic Data

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Remarks De novo 46,X,t(X;1)(Xpter>Xq26::1q21> 1qter;1pter>1q21::Xq26>Xqter),inv(7) (pter>q11.2::q22>qter); norm X is late replicating; elevated birth weight and length; diaphragmatic hernia

Publications

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Carrel L, Willard HF, Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci U S A96:7364-9 1999
PubMed ID: 10377420
 
Veugelers M, Vermeesch J, Watanabe K, Yamaguchi Y, Marynen P, David G, GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome. Genomics53:1-11 1998
PubMed ID: 9787072
 
Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D, Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome [see comments] Nat Genet12:241-7 1996
PubMed ID: 8589713
 
Punnett HH, Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation [letter] Am J Med Genet50:391-3 1994
PubMed ID: 8209925
 
Berchtold MW, Koller M, Egli R, Rhyner JA, Hameister H, Strehler EE, Localization of the intronless gene coding for calmodulin-like protein CLP to human chromosome 10p13-ter. Hum Genet90:496-500 1993
PubMed ID: 8428750
 
Johnson B, Brooks BA, Heinzmann C, Diep A, Mohandas T, Sparkes RS, Reyes H, Hoffman E, Lange E, Gatti RA, et al, The Ah receptor nuclear translocator gene (ARNT) is located on q21 of human chromosome 1 and on mouse chromosome 3 near Cf-3. Genomics17:592-8 1993
PubMed ID: 8244375
 
Mardon HJ, Grant RP, Grant KE, Harris H, Fibronectin splice variants are differentially incorporated into the extracellular matrix of tumorigenic and non-tumorigenic hybrids between normal fibroblasts and sarcoma cells. J Cell Sci104 ( Pt 3):783-92 1993
PubMed ID: 8314873
 
Superti-Furga A, Rocchi M, Schafer BW, Gitzelmann R, Complementary DNA sequence and chromosomal mapping of a human proteoglycan-binding cell-adhesion protein (dermatopontin). Genomics17:463-7 1993
PubMed ID: 8104875
 
Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, Sparkes RS, Kubagawa H, Mohandas T, Quan S, et al, Deficient expression of a B cell cytoplasmic tyrosine kinase in human X- linked agammaglobulinemia. Cell72:279-90 1993
PubMed ID: 8425221
 
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
 
Grundy HO, Peltz G, Moore KW, Golbus MS, Jackson LG, Lebo RV, The polymorphic Fc gamma receptor II gene maps to human chromosome 1q. Immunogenetics29:331-9 1989
PubMed ID: 2565886
 
Noguchi T, Mattei MG, Oberle I, Planche J, Imbert J, Pelassy C, Birg F, Birnbaum D, Localization of the mcf.2 transforming sequence to the X chromosome. EMBO J6:1301-7 1987
PubMed ID: 3038515
 
Oberle I, Camerino G, Wrogemann K, Arveiler B, Hanauer A, Raimondi E, Mandel JL, Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27. Hum Genet77:60-5 1987
PubMed ID: 3502701
 
Huerre-Jeanpierre C, Mattei MG, Weil D, Grzeschik KH, Chu ML, Sangiorgi FO, Sobel ME, Ramirez F, Junien C, Further evidence for the dispersion of the human fibrillar collagen genes. Am J Hum Genet38:26-37 1986
PubMed ID: 3004202
 
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
 
Oberle I, Camerino G, Kloepfer C, Moisan JP, Grzeschik KH, Hellkuhl B, Hors-Cayla MC, Van Cong N, Weil D, Mandel JL, Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome. Hum Genet72:43-9 1986
PubMed ID: 3002952
 
Murphy PD, Ruddle FH, Isolation and regional mapping of random X sequences from distal human X chromosome. Somat Cell Mol Genet11:433-44 1985
PubMed ID: 2994237
 
Oberle I, Drayna D, Camerino G, White R, Mandel JL, The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci U S A82:2824-8 1985
PubMed ID: 2986139
 
Camerino G, Grzeschik KH, Jaye M, De La Salle H, Tolstoshev P, Lecocq JP, Heilig R, Mandel JL, Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). Proc Natl Acad Sci U S A81:498-502 1984
PubMed ID: 6320191
 
Yen PH, Marsh B, Mohandas TK, Shapiro LJ, Isolation of genomic clones homologous to transcribed sequences from human X chromosome. Somat Cell Mol Genet10:561-71 1984
PubMed ID: 6594767
 
Lin MS, Oizumi J, Ng WG, Alfi OS, Donnell GN, Regional mapping of the gene for human UDPGal 4-epimerase on chromosome 1 in mouse-human hybrids. Cytogenet Cell Genet24:217-23 1979
PubMed ID: 509992
 
Punnett HH, Kistermacher ML, Greene AE, Coriell LL, An (X;1) translocation, balanced, 46 chromosomes. Repository identification no. GM-97. Cytogenet Cell Genet13:406-7 1974
PubMed ID: 4139001

External Links

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dbSNP dbSNP ID: 14938
NCBI GTR 312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1
OMIM 312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1
Omim Description BULLDOG SYNDROME
  DYSPLASIA GIGANTISM SYNDROME, X-LINKED; DGSX
  GOLABI-ROSEN SYNDROME
  SGB SYNDROME
  SIMPSON DYSMORPHIA SYNDROME; SDYS
  SIMPSON-GOLABI-BEHMEL SYNDROME; SGBS

Culture Protocols

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Passage Frozen 9
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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International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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