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Cellosaurus PMM2-CDG FiPS01-Sv4F-11 (CVCL_E6XQ)

[Text version]
Cell line name PMM2-CDG FiPS01-Sv4F-11
Synonyms PMM2 CDG FiPS01-Sv4F-11
Accession CVCL_E6XQ
Resource Identification Initiative To cite this cell line use: PMM2-CDG FiPS01-Sv4F-11 (RRID:CVCL_E6XQ)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Institut d'Investigacio Biomedica de Bellvitge (IDIBELL); Barcelona; Spain.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9115; PMM2; Simple; p.Gln33Ter (c.97C>T); ClinVar=VCV000803211; Zygosity=Heterozygous (BNLC).
  • Mutation; HGNC; HGNC:9115; PMM2; Simple; p.Val44Ala (c.131C>T); ClinVar=VCV000007725; Zygosity=Heterozygous (BNLC).
Disease Congenital disorder of glycosylation type Ia (NCIt: C126868)
PMM2-CDG (ORDO: Orphanet_79318)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4M
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX,Y
CSF1PO10,12
D5S81811
D7S8208,9
D13S3178,13
D16S53911,12
D21S1129
TH017,9
TPOX10,11
vWA16,20

Run an STR similarity search on this cell line
Web pages Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+PMM2+CDG+FiPS01-Sv4F-11+Solicitud+de+dep%C3%B3sito.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo+-+PMM2+CDG+FiPS01-Sv4F-11+Anexo.pdf
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1