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Cellosaurus PUMCi001-A (CVCL_A9YV)

[Text version]
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; 4115; GALC; Simple; p.Pro154His (c.461C>A); ClinVar=VCV001457103; Zygosity=Heterozygous (PubMed=32763824).
  • Mutation; 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:
AmelogeninX,Y
CSF1PO11,12
D2S133819,24
D3S135817
D5S81812
D6S104310,19
D7S82012
D8S117913,15
D12S39119
D13S3179,11
D16S5399,12
D18S5114,16
D19S43312.2,14
D21S1128.2,30
FGA22,23
Penta E10,13
TH017,9
TPOX8,9
vWA17,18

Run an STR similarity search on this cell line
Publications

PubMed=32763824; DOI=10.1016/j.scr.2020.101937
Wang W., Lv Y.-F., Zhang Y.-J., Dong W.-J., Zhang Y.
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 creation29-Oct-2020
Last entry update29-Jun-2023
Version number7