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Cellosaurus ESi104-A (CVCL_C6PW)

[Text version]
Cell line name ESi104-A
Synonyms PMM2-CDG FiPS48-Sv4F-7
Accession CVCL_C6PW
Resource Identification Initiative To cite this cell line use: ESi104-A (RRID:CVCL_C6PW)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
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.Pro213_Gly214ins23 (c.640-9T>G) (IVS7-9T>G); ClinVar=VCV000632945; Zygosity=Heterozygous (BNLC).
  • Mutation; HGNC; HGNC:9115; PMM2; Simple; p.Thr237Met (c.710C>T); ClinVar=VCV000021145; 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 Female
Age at sampling 1Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX
CSF1PO10
D5S81812
D7S82010
D13S31711,12
D16S53911
D21S1130,32.2
TH016,9
TPOX8
vWA16,17

Run an STR similarity search on this cell line
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/245/Caracteristicas%20-%20PMM2-CDG%20FiPS48-Sv4F-7%20Solicitud%20de%20dep%c3%b3sito-v2.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/245/Anexo%20-%20PMM2-CDG%20FiPS48-Sv4F-7%20Anexo-v2.pdf
Cross-references
Cell line databases/resources hPSCreg; ESi104-A
Biological sample resources BioSamples; SAMEA114409456
Encyclopedic resources Wikidata; Q117704326
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4