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GM27408 Fibroblast from Skin, Thigh

Description:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1

Affected:

Yes

Sex:

Male

Age:

4 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
PIGI Consented Sample
Biopsy Source Thigh
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Thigh
Race White
Ethnicity Not Hispanic/Latino
Country of Origin USA
Family Member 1
Family History N
Relation to Proband proband
ISCN 46,XY[20]
Species Homo sapiens
Common Name Human
Remarks Clinically affected; born 37-3/7 weeks gestation via cesarean for failure to progress after induction with Pitocin; congenital hypotonia; up slanting palpebral fissures; bilateral epicanthal folds; hypertelorism; nose has short tip and a prominent columella; chin mildly prognathic; gastroesophageal reflux; hypothyroidism; delayed developmental milestones; delayed in walking, running, and potty training; gross motor development delay; speech delay; autism; heterozygous mutation in CHAMP1 gene: c.542_543delCT (p.S181CfsX5); therapies include: physical, occupational, and speech therapy; currently takes fish oil, MCT oil, carnitine, vitamin D, and vitamin B complex; same subject as GM27458 (lymph) and GM27978 (iPSC).

Characterizations

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PDL at Freeze 5.41
Passage Frozen 3
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene CHAMP1
Chromosomal Location 13q34
Allelic Variant 1 616327.1; MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
Identified Mutation c.542_543delCT (p.S181Cfs*5)

Phenotypic Data

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Remarks Clinically affected; born 37-3/7 weeks gestation via cesarean for failure to progress after induction with Pitocin; congenital hypotonia; up slanting palpebral fissures; bilateral epicanthal folds; hypertelorism; nose has short tip and a prominent columella; chin mildly prognathic; gastroesophageal reflux; hypothyroidism; delayed developmental milestones; delayed in walking, running, and potty training; gross motor development delay; speech delay; autism; heterozygous mutation in CHAMP1 gene: c.542_543delCT (p.S181CfsX5); therapies include: physical, occupational, and speech therapy; currently takes fish oil, MCT oil, carnitine, vitamin D, and vitamin B complex; same subject as GM27458 (lymph) and GM27978 (iPSC).

Publications

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Yoshizaki Y, Ouchi Y, Kurniawan D, Yumoto E, Yoneyama Y, Rizqullah FR, Sato H, Sarholz MH, Natsume T, Kanemaki MT, Ikeda M, Ui A, Iemura K, Tanaka K, CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency Scientific reports14:31904 2024
PubMed ID: 39738383

External Links

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Gene Cards CHAMP1
NCBI GTR 616327 CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1
616579 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
OMIM 616327 CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1
616579 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

Culture Protocols

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Cumulative PDL at Freeze 5.41
Passage Frozen 3
Split Ratio 1:3
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
Commercial/For-profit:
$373.00USD
Academic/Non-profit/Government:
$216.00USD
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How to Order
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