Home  |  Contact

Cellosaurus PHAi003-A (CVCL_YM65)

[Text version]
Cell line name PHAi003-A
Synonyms iPSC-QPH03-I; PIDi003-A
Accession CVCL_YM65
Resource Identification Initiative To cite this cell line use: PHAi003-A (RRID:CVCL_YM65)
Comments From: Pan-Hammarstrom Laboratory, Karolinska Institutet; Stockholm; Sweden.
Population: Iranian; Persian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 11937; CD70; Simple; p.Ser84Profs*27 (c.250delT); ClinVar=VCV000599338; Zygosity=Homozygous (PubMed=31678777).
Disease CD70 deficiency (NCIt: C168591)
Severe combined immunodeficiency due to CD70 deficiency (ORDO: Orphanet_538958)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_YM66 ! PHAi003-B
Sex of cell Female
Age at sampling 28Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=31678777

Markers:
AmelogeninX
CSF1PO11,12
D1S165610,11
D2S44114
D2S133816,24
D3S135816
D5S81810,12
D7S82010
D8S117910,16
D10S124813
D12S39118,20
D13S31710
D16S5399
D18S5111,14
D19S43313,14.2
D21S1130,31.2
D22S104511,15
FGA20,23
SE3318,19
TH017,8
TPOX9,11
vWA16,17

Run an STR similarity search on this cell line
Publications

PubMed=31678777; DOI=10.1016/j.scr.2019.101612
Arias-Fuenzalida J., Yu J.-W., Abolhassani H., Du L.-K., Custodio J., Pan-Hammarstrom Q.
Generation of a human induced pluripotent stem cell line (PHAi003) from a primary immunodeficient patient with CD70 mutation.
Stem Cell Res. 41:101612-101612(2019)

Cross-references
Cell line databases/resources hPSCreg; PHAi003-A
Biological sample resources BioSamples; SAMEA6324717
Encyclopedic resources Wikidata; Q98128583
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number8