GM10946
LCL from B-Lymphocyte
Description:
ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2
MARKER CHROMOSOME
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Ophthalmologic Disorders |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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Other
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY,del(6)(q14q16.3)mat.arr 6p21.2p21.1(40306347-41270869)x3,6p12.3(48121234-48901610)x3,6q14.1q16.3(79577407-104717216)x1
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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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| 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 |
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| Remarks |
Decreased visual acuity; nystagmus; foveal hypoplasia; coarse facies; upslanting palpebral fissures; elongated philtrum; developmental delay; profound hypotonia; 46,XY,rec(6),del q, inv ins (6) (p21.3;q15q13)mat |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
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| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Rose NC, Menacker SJ, Schnur RE, Jackson L, McDonald-McGinn DM, Stump T, Emanuel BS, Zackai EH, Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism? Am J Med Genet42:700-5 1992 |
| PubMed ID: 1632442 |
| dbSNP |
dbSNP ID: 21424 |
| Gene Ontology |
GO:0005215 transporter activity |
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GO:0005302 L-tyrosine transporter activity |
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GO:0005395 eye pigment precursor transporter activity |
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GO:0005737 cytoplasm |
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GO:0006726 eye pigment biosynthesis |
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GO:0006810 transport |
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GO:0015105 arsenite transporter activity |
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GO:0016021 integral to membrane |
| NCBI Gene |
Gene ID:4948 |
| NCBI GTR |
203200 ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2 |
| OMIM |
203200 ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2 |
| Omim Description |
ALBINISM II |
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ALBINISM, OCULOCUTANEOUS, TYPE II |
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ALBINOIDISMPINK-EYED DILUTION, INCLUDED |
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OCULOCUTANEOUS ALBINISM, TYPE II; OCA2 |
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OCULOCUTANEOUS ALBINISM, TYROSINASE-POSITIVE |
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P, INCLUDED |
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PED, INCLUDED |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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