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GM22752 LCL from B-Lymphocyte

Description:

EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE
COLLAGEN, TYPE III, ALPHA-1; COL3A1

Affected:

Yes

Sex:

Female

Age:

47 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
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Family Member 1
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; abnormal procollagen III by electrophoresis analysis; affected brother is GM22750; see GM22753 Fibroblast; donor subject has a G>A change in intron 8 of the COL3A1 gene [IVS8+5G>A] resulting in the skipping of exon 8

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Gene COL3A1
Chromosomal Location 2q31
Allelic Variant 1 skipping of exon 8; EHLERS-DANLOS SYNDROME, TYPE IV
Identified Mutation IVS8+5G>A

Phenotypic Data

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Remarks Clinically affected; abnormal procollagen III by electrophoresis analysis; affected brother is GM22750; see GM22753 Fibroblast; donor subject has a G>A change in intron 8 of the COL3A1 gene [IVS8+5G>A] resulting in the skipping of exon 8

Publications

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Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N, The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos F&S reports5:63-71 2023
PubMed ID: 38524212

External Links

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Gene Cards COL3A1
Gene Ontology GO:0005201 extracellular matrix structural constituent
GO:0005581 collagen
GO:0005586 collagen type III
GO:0005737 cytoplasm
GO:0006817 phosphate transport
GO:0008015 circulation
GO:0009887 organogenesis
NCBI Gene Gene ID:1281
NCBI GTR 120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1
130050 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC
OMIM 120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1
130050 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC
Omim Description EDS IV
  EDS4
  EHLERS-DANLOS SYNDROME, ARTERIAL TYPE
  EHLERS-DANLOS SYNDROME, ECCHYMOTIC TYPE
  EHLERS-DANLOS SYNDROME, SACK-BARABAS TYPE
  EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT

Culture Protocols

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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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