ID   PMM2-CDG FiPS01-Sv4F-11
AC   CVCL_E6XQ
SY   PMM2 CDG FiPS01-Sv4F-11
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+PMM2+CDG+FiPS01-Sv4F-11+Solicitud+de+dep%C3%B3sito.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo+-+PMM2+CDG+FiPS01-Sv4F-11+Anexo.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Institut d'Investigacio Biomedica de Bellvitge (IDIBELL); Barcelona; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:9115; PMM2; Simple; p.Gln33Ter (c.97C>T); ClinVar=VCV000803211; Zygosity=Heterozygous (BNLC).
CC   Sequence variation: Mutation; HGNC; HGNC:9115; PMM2; Simple; p.Val44Ala (c.131C>T); ClinVar=VCV000007725; 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,Y
ST   CSF1PO: 10,12
ST   D13S317: 8,13
ST   D16S539: 11,12
ST   D21S11: 29
ST   D5S818: 11
ST   D7S820: 8,9
ST   TH01: 7,9
ST   TPOX: 10,11
ST   vWA: 16,20
DI   NCIt; C126868; Congenital disorder of glycosylation type Ia
DI   ORDO; Orphanet_79318; PMM2-CDG
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4M
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
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