ID   ESi035-A
AC   CVCL_V152
SY   [AD]FiPSAG07645-4F-17
DR   hPSCreg; ESi035-A
DR   SKIP; SKIP002537
DR   Wikidata; Q54832768
WW   Info; P-CMR[C]; -; https://p-cmrc.cat/wp-content/uploads/2020/06/ADAG07645-4F-172.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Documento_Deposito_Lineas_ADFiPSAG07645-4F-17.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo_deposito_ADFiPS-AG07645-4F-17.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Centro de Medecina Regenerativa de Barcelona (CMRB); Barcelona; Spain.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Ala246Glu (c.737C>A); ClinVar=VCV000018125; Zygosity=Unspecified (BNLC).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123412; Alzheimer's disease 3
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_V148 ! AG07645
SX   Female
AG   15Y6M
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 10-04-25; Version: 23
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