GM29352
LCL from B-Lymphocyte
Description:
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD
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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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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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White
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Subject Type
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family with at least 3 members, including 1 proband, not a trio
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Czech
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Country of Origin
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CZECH REPUBLIC
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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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| Gene |
VWF |
| Chromosomal Location |
12p13.31 |
| Allelic Variant 1 |
613160.0014; VON WILLEBRAND DISEASE, TYPE I |
| Identified Mutation |
c.2561G>A (p.ARG854GLN); In a 23-year-old woman with a lifelong history of bleeding but a negative family history for same, Peerlinck et al. (1992) found compound heterozygosity for an arg854-to-gln mutation in the putative factor VIII-binding domain of VWF on one allele and very low levels of mRNA transcription on a second allele.
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| Gene |
TNFRSF13B |
| Chromosomal Location |
17p11.2 |
| Allelic Variant 1 |
Leu69Thrfs*12; IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2 |
| Identified Mutation |
c.204dupA (Leu69Thrfs*12) |
| Remarks |
Mother of proband and father (GM29661) are unaffected carriers; Proband is GM29659; healthy Sibling to proband is GM29662. |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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