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GM22786 Fibroblast from Skin, Unspecified

Description:

MARSHALL SYNDROME
COLLAGEN, TYPE XI, ALPHA-1; COL11A1

Affected:

Yes

Sex:

Female

Age:

33 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Unspecified
Race Black/African American
Family Member 2
Family History N
Relation to Proband mother
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; congenital cataracts; strabismus; hypertelorism; flat nasal bridge; affected son is GM22659; donor subject is heterozygous for an IVS50+1G>A splice site mutation in the COL11A1 gene; mutation frequency indicates possible mosaicism

Characterizations

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PDL at Freeze 5.5
Passage Frozen 4
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Gene COL11A1
Chromosomal Location 1p21
Allelic Variant 1 unknown; MARSHALL/STICKLER SYNDROME
Identified Mutation IVS50+1G>A

Phenotypic Data

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Remarks Clinically affected; congenital cataracts; strabismus; hypertelorism; flat nasal bridge; affected son is GM22659; donor subject is heterozygous for an IVS50+1G>A splice site mutation in the COL11A1 gene; mutation frequency indicates possible mosaicism

External Links

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Gene Cards COL11A1
Gene Ontology GO:0001502 cartilage condensation
GO:0005201 extracellular matrix structural constituent
GO:0005581 collagen
GO:0005592 collagen type XI
GO:0005737 cytoplasm
GO:0006817 phosphate transport
GO:0007601 visual perception
GO:0007605 perception of sound
GO:0016337 cell-cell adhesion
GO:0030198 extracellular matrix organization and biogenesis
GO:0030674 protein binding, bridging
NCBI Gene Gene ID:1301
NCBI GTR 120280 COLLAGEN, TYPE XI, ALPHA-1; COL11A1
154780 MARSHALL SYNDROME; MRSHS
OMIM 120280 COLLAGEN, TYPE XI, ALPHA-1; COL11A1
154780 MARSHALL SYNDROME; MRSHS
Omim Description MARSHALL SYNDROME

Culture Protocols

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Passage Frozen 4
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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How to Order
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