ID   ESi056-A
AC   CVCL_VD43
SY   [AS]FiPS3-Ep6F-9; AS-FiPS3-Ep6F-9; AS FiPS3 Ep6F-9; AS FiPS 3-Ep6F-9; [AS] FiPS 3-Ep6F-9
DR   BioSamples; SAMEA104134950
DR   hPSCreg; ESi056-A
DR   Wikidata; Q54832814
RX   PubMed=29150092;
WW   https://p-cmrc.cat/wp-content/uploads/2020/06/AS-FiPS-3-Ep6F-9.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/95/Caracteristicas%20-%20Documento_Deposito_Lineas_AS-FiPS-3-Ep6F-9.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/95/Anexo%20-%20Anexo_deposito_AS-FiPS-3-Ep6F-9.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; 2207; COL4A5; Simple; p.Gly1351Asp (c.4052G>A); Zygosity=Hemizygous (PubMed=29150092).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=29150092
ST   Amelogenin: X,Y
ST   CSF1PO: 12,13
ST   D13S317: 12,13
ST   D16S539: 11
ST   D21S11: 28,29
ST   D5S818: 12,13
ST   D7S820: 9,12
ST   TH01: 9.3
ST   TPOX: 8,12.5
ST   vWA: 17,18
DI   NCIt; C34842; Alport syndrome
DI   ORDO; Orphanet_63; Alport syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 11
//
RX   PubMed=29150092; DOI=10.1016/j.scr.2017.08.019;
RA   Kuebler B., Aran B., Miquel-Serra L., Munoz Y., Ars E., Bullich G.,
RA   Furlano M., Torra R., Marti M., Veiga A., Raya A.;
RT   "Generation of integration-free induced pluripotent stem cell lines
RT   derived from two patients with X-linked Alport syndrome (XLAS).";
RL   Stem Cell Res. 25:291-295(2017).
//