NA27408
DNA from Fibroblast
Description:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Thigh
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Country of Origin
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USA
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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ISCN
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46,XY[20]
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
5.41 |
| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
CHAMP1 |
| Chromosomal Location |
13q34 |
| Allelic Variant 1 |
616327.1; MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40 |
| Identified Mutation |
c.542_543delCT (p.S181Cfs*5) |
| 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). |
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