NA12787
DNA from Fibroblast
Description:
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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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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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XX,del(2)(pter>q35:)
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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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|
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 2: DELETION Aneuploid Segment (-)2q35>2qter |
| Remarks |
Small for gestational age; macrocephaly; hypertelorism; bilat cleft lip & palate; post rotated ears; micrognathia; camptodactyly; valgus deform of rt foot; duodenal atresia; secund atrial septal def; Dandy-Walker malform; hydronephrosis |
| Boone M, Ramasamy P, Zuallaert J, Bouwmeester R, Van Moer B, Maddelein D, Turan D, Hulstaert N, Eeckhaut H, Vandermarliere E, Martens L, Degroeve S, De Neve W, Vranken W, Callewaert N, Massively parallel interrogation of protein fragment secretability using SECRiFY reveals features influencing secretory system transit Nature communications12:6414 2020 |
| PubMed ID: 34741024 |
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