Cellosaurus cell line BSS3-PBMC-iPS4F8 (CVCL

Cellosaurus BSS3-PBMC-iPS4F8 (CVCL_QX24)

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Cell line name

BSS3-PBMC-iPS4F8

Accession

CVCL_QX24

Resource Identification Initiative

To cite this cell line use: BSS3-PBMC-iPS4F8 (RRID:CVCL_QX24)

Comments

From: Centre for Genomics and Oncological Research (GENYO); Granada; Spain.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; HGNC:4444; GP9; Simple; p.Phe71Ser (c.212T>C); ClinVar=VCV000013531; Zygosity=Homozygous (PubMed=28395735).

Disease

Bernard-Soulier syndrome (NCIt: C84595)
Bernard-Soulier syndrome (ORDO: Orphanet_274)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Sex of cell

Female

Age at sampling

Age unspecified

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=28395735

Markers:

Amelogenin	X
CSF1PO	11,12
D5S818	12,13
D7S820	10,11
D13S317	11
D16S539	12
D21S11	29
TH01	6
TPOX	11
vWA	17

Publications

PubMed=28395735; DOI=10.1016/j.scr.2017.02.001
Lourdes Lopez-Onieva, Mar Lamolda, Rosa Montes, Maria Luisa Lozano, Vicente Vicente, Jose Rivera, Veronica Ramos-Mejia, Pedro J. Real;
Induced pluripotent stem cells derived from Bernard-Soulier syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene.
Stem Cell Res. 20:10-13(2017)

Cross-references

Encyclopedic resources

Wikidata; Q54798416

Entry history

Entry creation

15-Nov-2017

Last entry update

19-Dec-2024

Version number