GM27961
Fibroblast from Skin, Skin
Description:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
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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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Skin
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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, Skin
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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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Ethnicity
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Irish, American Indian, European
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Country of Origin
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USA
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Family Member
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2
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Family History
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N
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Relation to Proband
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mother
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 |
6.3 |
| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Unaffected mother of affected proband; LCL is GM27962; clinical exome sequencing test results were negative for the pathogenic heterozygous de novo CHAMP1 variant c.542_543delCT (p.Ser181CysfsX5) harbored by affected daughter, GM27963 (fibro) and GM27967 (LCL); though this parent does not have the pathogenic variant, the possibility of germline mosaicism cannot be excluded. |
| 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 |
6.3 |
| Passage Frozen |
3 |
| Split Ratio |
1:6 |
| 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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