Cellosaurus cell line BSS2-PBMC-iPS4F24 (CVCL

Cellosaurus BSS2-PBMC-iPS4F24 (CVCL_QX25)

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Cell line name

BSS2-PBMC-iPS4F24

Accession

CVCL_QX25

Resource Identification Initiative

To cite this cell line use: BSS2-PBMC-iPS4F24 (RRID:CVCL_QX25)

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.Asn61Ser (c.182A>G); ClinVar=VCV000013529; Zygosity=Homozygous (PubMed=27934591).

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=27934591

Markers:

Amelogenin	X
CSF1PO	12
D5S818	12
D7S820	10
D13S317	11
D16S539	9
D21S11	30,32
TH01	9,9.3
TPOX	9,11
vWA	16,18

Publications

PubMed=27934591; DOI=10.1016/j.scr.2016.11.012
Lourdes Lopez-Onieva, Candela Machuca-Arellano, Mar Lamolda, Rosa Montes, Maria Luisa Lozano, Vicente Vicente, Jose Rivera, Veronica Ramos-Mejia, Pedro J. Real;
Generation of a human induced pluripotent stem cell (iPSC) line from a Bernard-Soulier syndrome patient with the mutation p.Asn45Ser in the GPIX gene.
Stem Cell Res. 17:603-606(2016)

Cross-references

Encyclopedic resources

Wikidata; Q54798414

Entry history

Entry creation

15-Nov-2017

Last entry update

19-Dec-2024

Version number