Cellosaurus cell line PUMCi001-A (CVCL

Cellosaurus PUMCi001-A (CVCL_A9YV)

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Cell line name

PUMCi001-A

Synonyms

D17; K-iPSCs

Accession

CVCL_A9YV

Resource Identification Initiative

To cite this cell line use: PUMCi001-A (RRID:CVCL_A9YV)

Comments

From: Peking Union Medical College; Beijing; China.
Population: Asian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:4115; GALC; Simple; p.Pro154His (c.461C>A); ClinVar=VCV001457103; Zygosity=Heterozygous (PubMed=32763824).
Mutation; HGNC; HGNC:4115; GALC; Simple; p.Gly415Glu (c.1244G>A); ClinVar=VCV001334157; Zygosity=Heterozygous (PubMed=32763824).

Disease

Krabbe disease (NCIt: C61254)
Krabbe disease (ORDO: Orphanet_487)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Sex of cell

Male

Age at sampling

13Y

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=32763824

Markers:

Amelogenin	X,Y
CSF1PO	11,12
D2S1338	19,24
D3S1358	17
D5S818	12
D6S1043	10,19
D7S820	12
D8S1179	13,15
D12S391	19
D13S317	9,11
D16S539	9,12
D18S51	14,16
D19S433	12.2,14
D21S11	28.2,30
FGA	22,23
Penta E	10,13
TH01	7,9
TPOX	8,9
vWA	17,18

Publications

PubMed=32763824; DOI=10.1016/j.scr.2020.101937
Wei Wang, Ya-Feng Lv, Yan-Jun Zhang, Wen-Ji Dong, Ye Zhang;
Generation of a human induced pluripotent stem cell line PUMCi001-A from a patient with Krabbe disease.
Stem Cell Res. 48:101937-101937(2020)

Cross-references

Cell line databases/resources

hPSCreg; PUMCi001-A
SKIP; SKIP005823

Encyclopedic resources

Wikidata; Q102114791

Entry history

Entry creation

29-Oct-2020

Last entry update

19-Dec-2024

Version number