ID   ESi104-A
AC   CVCL_C6PW
SY   PMM2-CDG FiPS48-Sv4F-7
DR   BioSamples; SAMEA114409456
DR   hPSCreg; ESi104-A
DR   Wikidata; Q117704326
WW   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
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/245/Anexo%20-%20PMM2-CDG%20FiPS48-Sv4F-7%20Anexo-v2.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   Sequence variation: Mutation; HGNC; 9115; PMM2; Simple; p.Pro213_Gly214ins23 (c.640-9T>G) (IVS7-9T>G); ClinVar=VCV000632945; Zygosity=Heterozygous (BNLC).
CC   Sequence variation: Mutation; HGNC; 9115; PMM2; Simple; p.Thr237Met (c.710C>T); ClinVar=VCV000021145; Zygosity=Heterozygous (BNLC).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): BNLC
ST   Amelogenin: X
ST   CSF1PO: 10
ST   D13S317: 11,12
ST   D16S539: 11
ST   D21S11: 30,32.2
ST   D5S818: 12
ST   D7S820: 10
ST   TH01: 6,9
ST   TPOX: 8
ST   vWA: 16,17
DI   NCIt; C126868; Congenital disorder of glycosylation type Ia
DI   ORDO; Orphanet_79318; PMM2-CDG
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 30-01-24; Version: 3
//