GM01570

GM01570 Fibroblast

Description:

INVERTED CHROMOSOME

Affected:

No Data

Sex:

Male

Age:

16 FW (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Chromosome Abnormalities

Cell Type

Fibroblast

Transformant

Untransformed

Family Member

Relation to Proband

proband

Confirmation

Karyotypic analysis after cell line submission to CCR

ISCN

46,XY,rec(13)(pter>q22:: p11>pter)pat

Species

Homo sapiens

Common Name

Human

Remarks

Paternal karyotype is 46,XY,inv(13) (p11q22); severe hydrocephaly ; edema; low set malformed ears; absent thumbs; bilateral talipes

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Chromosome Analysis

Cytogenetics

Chromosome 13: DUPLICATION Aneuploid Segment (+)13pter>13p11

Chromosome 13: DUPLICATION Aneuploid Segment (-)13q22>13qter

Chromosome 13: DUPLICATION Trisomic Segment 13pter>13p11

Chromosome 13: INVERSION Aneuploid Segment (+)13pter>13p11

Chromosome 13: INVERSION Aneuploid Segment (-)13q22>13qter

Chromosome 13: INVERSION Trisomic Segment 13pter>13p11

Chromosome 13: RECOMBINANT Aneuploid Segment (+)13pter>13p11

Chromosome 13: RECOMBINANT Aneuploid Segment (-)13q22>13qter

Chromosome 13: RECOMBINANT Trisomic Segment 13pter>13p11

Phenotypic Data

Remarks

Paternal karyotype is 46,XY,inv(13) (p11q22); severe hydrocephaly ; edema; low set malformed ears; absent thumbs; bilateral talipes

Publications

Seabright M, Gregson N, Aronson MM, Greene AE, Coriell LL, Recombinant chromosome 13 with a duplication of a short arm. Repository identification No. GM-1570. Cytogenet Cell Genet23:281 1979

PubMed ID: 446098

External Links

dbSNP

dbSNP ID: 22507

Culture Protocols

Passage Frozen

Split Ratio

1:3

Temperature

37 C

Percent CO2

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

Substrate

None specified

Subcultivation Method

trypsin-EDTA

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD