Cellosaurus cell line PHAi003-A (CVCL

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; 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:

Amelogenin	X
CSF1PO	11,12
D1S1656	10,11
D2S441	14
D2S1338	16,24
D3S1358	16
D5S818	10,12
D7S820	10
D8S1179	10,16
D10S1248	13
D12S391	18,20
D13S317	10
D16S539	9
D18S51	11,14
D19S433	13,14.2
D21S11	30,31.2
D22S1045	11,15
FGA	20,23
SE33	18,19
TH01	7,8
TPOX	9,11
vWA	16,17

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 creation

12-Mar-2020

Last entry update

19-Dec-2024

Version number