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GM27190 Fibroblast

Description:

RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1

Affected:

Yes

Sex:

Female

Age:

6 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
FOXG1
PIGI Consented Sample
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Race White
Ethnicity Not Hispanic/Latino
Ethnicity Italian/Jewish/Austrian/Russian
Country of Origin USA
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; age of diagnosis 2 years; age of symptom onset 4 months; microcephaly; strabismus; epilepsy; hypotonia; cortical vision impairment; non-verbal; global developmental delay; cannot sit up without falling; cannot walk or crawl; dystonia; spasticity; muscle weakness; gastrointestinal reflux; failure to thrive; whole exome sequencing found de novo variant in FOXG1 gene c.924G>A (p.W308X); dependent on feeding tube; assistive devices include wheelchair, orthotics, and communication/learning devices; medications include onfi, depakote, fycompa, and CBD oil; surgeries include G-tube and adenoids; lymph (GM27227) and iPSC (GM28576).

Characterizations

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PDL at Freeze 6
Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene FOXG1
Chromosomal Location 14q12
Allelic Variant 1 p.W308X; RETT SYNDROME, CONGENITAL VARIANT
Identified Mutation c.924G>A (p.W308X)

Phenotypic Data

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Remarks Clinically affected; age of diagnosis 2 years; age of symptom onset 4 months; microcephaly; strabismus; epilepsy; hypotonia; cortical vision impairment; non-verbal; global developmental delay; cannot sit up without falling; cannot walk or crawl; dystonia; spasticity; muscle weakness; gastrointestinal reflux; failure to thrive; whole exome sequencing found de novo variant in FOXG1 gene c.924G>A (p.W308X); dependent on feeding tube; assistive devices include wheelchair, orthotics, and communication/learning devices; medications include onfi, depakote, fycompa, and CBD oil; surgeries include G-tube and adenoids; lymph (GM27227) and iPSC (GM28576).

Publications

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Hettige NC, Peng H, Wu H, Zhang X, Yerko V, Zhang Y, Jefri M, Soubannier V, Maussion G, Alsuwaidi S, Ni A, Rocha C, Krishnan J, McCarty V, Antonyan L, Schuppert A, Turecki G, Fon EA, Durcan TM, Ernst C, FOXG1 dose tunes cell proliferation dynamics in human forebrain progenitor cells Stem cell reports17:475-488 2021
PubMed ID: 35148845

External Links

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Gene Cards FOXG1
Gene Ontology GO:0003700 transcription factor activity
GO:0005634 nucleus
GO:0006355 regulation of transcription, DNA-dependent
GO:0007420 brain development
GO:0009653 morphogenesis
NCBI Gene Gene ID:2290
NCBI GTR 164874 FORKHEAD BOX G1; FOXG1
613454 RETT SYNDROME, CONGENITAL VARIANT
OMIM 164874 FORKHEAD BOX G1; FOXG1
613454 RETT SYNDROME, CONGENITAL VARIANT

Culture Protocols

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Cumulative PDL at Freeze 6
Passage Frozen 2
Split Ratio 1:11
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
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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