GM27408
Fibroblast from Skin, Thigh
Description:
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD
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 |
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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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Fibroblast from Skin, Thigh
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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). |
| 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 |
| 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 |
- |
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